Canonical Allele Identifier: CA1069062130

Gene:

Linked Data

• gnomAD v3: 4-144601561-C-CAAAAAAA
• gnomAD v4: 4-144601561-C-CAAAAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601574_144601580dup , CM000666.2:g.144601574_144601580dup	GRCh38
NC_000004.11:g.145522726_145522732dup , CM000666.1:g.145522726_145522732dup	GRCh37
NC_000004.10:g.145742176_145742182dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185590_328-185584dup	ENSP00000497507.1:n.328-185590_328-185584dup