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: CA1035008862

Gene: ANAPC1 HGNC NCBI

Linked Data

dbSNP Id: rs1680865023

gnomAD v3: 2-111618394-CT-C

gnomAD v4: 2-111618394-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.111618395del , CM000664.2:g.111618395del	GRCh38
NC_000002.11:g.112375972del , CM000664.1:g.112375972del	GRCh37
NC_000002.10:g.112092443del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000643447.1:c.920-3785del	ENSP00000494863.1:n.920-3785del
XR_001739641.1:n.1433del

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