Canonical Allele Identifier: CA917266527

Gene:

Linked Data

• dbSNP Id: rs397795077
• gnomAD v3: 4-102499701-CTT-C
• gnomAD v4: 4-102499701-CTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102499703_102499704del , CM000666.2:g.102499703_102499704del	GRCh38
NC_000004.11:g.103420860_103420861del , CM000666.1:g.103420860_103420861del	GRCh37
NC_000004.10:g.103639892_103639893del	NCBI36
NG_050628.1:g.3375_3376del

Transcript Alleles

HGVS	Amino-acid Change
XM_011532467.1:c.643+1546_643+1547del	XP_011530769.1:n.643+1546_643+1547del
NR_136202.1:n.48+2736_48+2737del