NM_000106.6:c.775delA cannot be mapped directly to genome build GRCh38

HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_000106.6:c.775del
RefSeqGene (:g.) RefSeqGene record not available RefSeqGene record not available
Predicted effect on protein (:p.) NP_000097.3(LRG_303p1):p.(Arg259GlyfsTer2)
Predicted effect on protein (:p.) NP_000097.3:p.(R259Gfs*2)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000022.10:g.42524244del GRCh37:22:42524243:CT:C
NW_004504305.1:g.50569del GRCh37:HSCHR22_2_CTG1:50568:CT:C, GRCh38:HSCHR22_2_CTG1:50568: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 RefSeqGene record not available
Chromosomal GRCh37 NC_000022.10:g.42524244del

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_000106.6:c.775del

Unable to provide variant descriptions with respect to the RefSeqGene sequence because:

  • No RefSeqGene has been created for the CYP2D6 gene;
  • Or, Transcript NM_000106.6 has not been annotated in the RefSeqGene record for the CYP2D6 gene

Transcript-level variants overlapping genome coordinates NC_000022.10:42524244


Genomic coordinates (VCF) with respect to genome build GRCh37

NC_000022.10-42524243-CT-C


Aggregated data sources and clinical significance

VariantValidator

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