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: CA54966618

Gene:

Linked Data

dbSNP Id: rs1039748513

MyVariant Identifiers: chr2:g.123136805_123136808del (hg19) chr2:g.122379229_122379232del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.122379230_122379233del , CM000664.2:g.122379230_122379233del	GRCh38
NC_000002.11:g.123136806_123136809del , CM000664.1:g.123136806_123136809del	GRCh37
NC_000002.10:g.122853276_122853279del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_923278.1:n.556-13733_556-13730del
XR_001739684.1:n.556-13733_556-13730del

Search 100 bp 5'

Search 100 bp 3'