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: CA931954150

Gene:

Linked Data

dbSNP Id: rs1844186325

gnomAD v3: 10-102837800-GCTT-G

gnomAD v4: 10-102837800-GCTT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.102837804_102837806del , CM000672.2:g.102837804_102837806del	GRCh38
NC_000010.10:g.104597561_104597563del , CM000672.1:g.104597561_104597563del	GRCh37
NC_000010.9:g.104587551_104587553del	NCBI36
NG_007955.1:g.4731_4733del

Search 100 bp 5'

Search 100 bp 3'