Canonical Allele Identifier: CA107753947

Gene:

Linked Data

• dbSNP Id: rs896917430
• gnomAD v3: 4-144601405-C-CA
• gnomAD v4: 4-144601405-C-CA
• MyVariant Identifiers: chr4:g.145522557_145522558insA (hg19) ; chr4:g.144601405_144601406insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601412dup , CM000666.2:g.144601412dup	GRCh38
NC_000004.11:g.145522564dup , CM000666.1:g.145522564dup	GRCh37
NC_000004.10:g.145742014dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185428dup	ENSP00000497507.1:n.328-185428dup