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: CA538932902

Gene: CASP8 HGNC NCBI

Linked Data

dbSNP Id: rs1401553418

gnomAD v2: 2-202152565-TTTG-T

gnomAD v3: 2-201287842-TTTG-T

gnomAD v4: 2-201287842-TTTG-T

MyVariant Identifiers: chr2:g.202152566_202152568del (hg19) chr2:g.201287843_201287845del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201287847_201287849del , CM000664.2:g.201287847_201287849del	GRCh38
NC_000002.11:g.202152570_202152572del , CM000664.1:g.202152570_202152572del	GRCh37
NC_000002.10:g.201860815_201860817del	NCBI36
NG_007497.1:g.59390_59392del , LRG_34:g.59390_59392del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696069.1:c.1259+2530_1259+2532del	ENSP00000512371.1:n.1259+2530_1259+2532del

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