Canonical Allele Identifier: CA1069062076

Gene:

Linked Data

• dbSNP Id: rs572605923
• gnomAD v3: 4-144601561-CAAAAAA-C
• gnomAD v4: 4-144601561-CAAAAAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601575_144601580del , CM000666.2:g.144601575_144601580del	GRCh38
NC_000004.11:g.145522727_145522732del , CM000666.1:g.145522727_145522732del	GRCh37
NC_000004.10:g.145742177_145742182del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185589_328-185584del	ENSP00000497507.1:n.328-185589_328-185584del