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: CA545480417

Gene: CD96 HGNC NCBI

Linked Data

dbSNP Id: rs1158244969

gnomAD v2: 3-111052516-TCTCTGTATGATGCTG-T

gnomAD v3: 3-111333669-TCTCTGTATGATGCTG-T

gnomAD v4: 3-111333669-TCTCTGTATGATGCTG-T

MyVariant Identifiers: chr3:g.111052517_111052531del (hg19) chr3:g.111333670_111333684del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.111333673_111333687del , CM000665.2:g.111333673_111333687del	GRCh38
NC_000003.11:g.111052520_111052534del , CM000665.1:g.111052520_111052534del	GRCh37
NC_000003.10:g.112535210_112535224del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000460744.1:c.-325-30840_-325-30826del	ENSP00000475194.1:n.-325-30840_-325-30826del
XR_924332.1:n.163+27155_163+27169del

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