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: CA763579755

Gene: CTLA4 HGNC NCBI

Linked Data

dbSNP Id: rs1360715723

gnomAD v3: 2-203857000-CAATCAATTTTATTTGCTAAATTTA-C

gnomAD v4: 2-203857000-CAATCAATTTTATTTGCTAAATTTA-C

MyVariant Identifiers: chr2:g.204721724_204721747del (hg19) chr2:g.203857001_203857024del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203857001_203857024del , CM000664.2:g.203857001_203857024del	GRCh38
NC_000002.11:g.204721724_204721747del , CM000664.1:g.204721724_204721747del	GRCh37
NC_000002.10:g.204429969_204429992del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000696479.1:c.47+2925_47+2948del	ENSP00000512655.1:n.47+2925_47+2948del
XR_923797.1:n.225-5472_225-5449del

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