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: CA1041453157

Gene: CTLA4 HGNC NCBI

Linked Data

dbSNP Id: rs1688512877

gnomAD v3: 2-203856857-AGTT-A

gnomAD v4: 2-203856857-AGTT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.203856861_203856863del , CM000664.2:g.203856861_203856863del	GRCh38
NC_000002.11:g.204721584_204721586del , CM000664.1:g.204721584_204721586del	GRCh37
NC_000002.10:g.204429829_204429831del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696479.1:c.47+2785_47+2787del	ENSP00000512655.1:n.47+2785_47+2787del
XR_923797.1:n.225-5612_225-5610del

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