NM_000518.5:c.71_73delTTG cannot be mapped directly to genome build GRCh38

HGVS-compliant variant descriptions

(alignment method = splign)

Type Variant description Links
Transcript (:c.) NM_000518.5:c.71_73del
RefSeqGene (:g.) RefSeqGene record not available RefSeqGene record not available
Predicted effect on protein (:p.) NP_000509.1(LRG_1232p1):p.(Val24del)
Predicted effect on protein (:p.) NP_000509.1:p.(V24del)
Variant description Genome Build: Chr: Pos: Ref: Alt Links
NC_000011.9:g.5248180_5248182del GRCh37:11:5248178:CCAA: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_000011.9:g.5248180_5248182del

Transcript description(s)

Reference sequence type Variant description
RefSeq Transcript NM_000518.5:c.71_73del
LRG LRG_1232t1:c.71_73del

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

  • No RefSeqGene has been created for the HBB gene;
  • Or, Transcript NM_000518.5 has not been annotated in the RefSeqGene record for the HBB gene

Transcript-level variants overlapping genome coordinates NC_000011.9:5248180_5248182


Genomic coordinates (VCF) with respect to genome build GRCh37

NC_000011.9-5248178-CCAA-C


Aggregated data sources and clinical significance

VariantValidator

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Alignment method: