Canonical Allele Identifier: CA1139667940

Gene:

Linked Data

• dbSNP Id: rs2052845246

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.641059del , CM000686.2:g.641059del	GRCh38
NC_000024.9:g.551794del , CM000686.1:g.551794del	GRCh37
NC_000024.8:g.521794del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000711141.1:c.605del	ENSP00000518639.1:p.Met202ArgfsTer22
ENST00000711142.1:c.605del	ENSP00000518640.1:p.Met202ArgfsTer?
ENST00000711143.1:c.605del	ENSP00000518641.1:p.Met202ArgfsTer22
ENST00000711145.1:c.605del	ENSP00000518642.1:p.Met202ArgfsTer?