Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA118673786

Gene:

Linked Data

dbSNP Id: rs1013796429

gnomAD v3: 5-51921996-GCTTGAT-G

gnomAD v4: 5-51921996-GCTTGAT-G

MyVariant Identifiers: chr5:g.51217831_51217836del (hg19) chr5:g.51921997_51922002del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.51921998_51922003del , CM000667.2:g.51921998_51922003del	GRCh38
NC_000005.9:g.51217832_51217837del , CM000667.1:g.51217832_51217837del	GRCh37
NC_000005.8:g.51253589_51253594del	NCBI36

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