A more recent version of the selected reference sequence NM_000106.5 is available (NM_000106.6):

Automap has added the updated variant description NM_000106.6:c.775del to the HGVS-compliant variants table For optimal mapping to a genomic position, we recommend submission of NM_000106.6:c.775del to VariantValidator NM_000106.6:c.775del MUST be fully validated prior to use in reports

HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_000106.5:c.775del
RefSeqGene (:g.) NG_008376.3:g.6750del
Predicted effect on protein (:p.) NP_000097.3(LRG_303p1):p.(Arg259GlyfsTer2)
Predicted effect on protein (:p.) NP_000097.3:p.(R259Gfs*2)
Updated Transcript (:c.) NM_000106.6:c.775del
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000022.10:g.42524244del GRCh37:22:42524243:CT:C
NC_000022.11:g.42128242del GRCh38:22:42128241:CT:C
NT_187682.1:g.50583del GRCh38:HSCHR22_3_CTG1:50582:CT:C
NW_004504305.1:g.50569del GRCh37:HSCHR22_2_CTG1:50568:CT:C, GRCh38:HSCHR22_2_CTG1:50568:CT:C
NW_009646208.1:g.13808del GRCh38:HSCHR22_5_CTG1:13807:CT:C
NW_014040931.1:g.21831del GRCh38:HSCHR22_7_CTG1:21830:CT:C
NW_015148968.1:g.5983del GRCh38:HSCHR22_8_CTG1:5982:CT:C

Recommended variant descriptions

View recommended variant descriptions in UCSC Genome Browser

  1. We recommend using a genomic and a transcript description in all publications
  2. We currently recommend that RefSeqGene descriptions should be used when possible

Genomic descriptions

Reference sequence type Variant description
RefSeqGene NG_008376.3:g.6750del
Chromosomal GRCh38 NC_000022.11:g.42128242del
LRG LRG_303:g.6750del

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_000106.5:c.775del
LRG LRG_303t1:c.775del

The current status of LRG_303 is pending therefore changes may be made to the LRG reference sequence


Transcript-level variants overlapping genome coordinates NC_000022.11:42128242


Genomic coordinates (VCF) with respect to genome build GRCh38

22-42128241-CT-C


Aggregated data sources and clinical significance

VariantValidator

Select Genome Build
Alignment method: