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: CA538932897

Gene: CASP8 HGNC NCBI

Linked Data

dbSNP Id: rs1477021343

gnomAD v2: 2-202152453-G-GTGTT

gnomAD v3: 2-201287730-G-GTGTT

gnomAD v4: 2-201287730-G-GTGTT

MyVariant Identifiers: chr2:g.202152453_202152454insTGTT (hg19) chr2:g.201287730_201287731insTGTT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201287733_201287736dup , CM000664.2:g.201287733_201287736dup	GRCh38
NC_000002.11:g.202152456_202152459dup , CM000664.1:g.202152456_202152459dup	GRCh37
NC_000002.10:g.201860701_201860704dup	NCBI36
NG_007497.1:g.59276_59279dup , LRG_34:g.59276_59279dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696069.1:c.1259+2416_1259+2419dup	ENSP00000512371.1:n.1259+2416_1259+2419dup

Search 100 bp 5'

Search 100 bp 3'