Canonical Allele Identifier: CA555410615

Gene:

Linked Data

• dbSNP Id: rs572605923
• gnomAD v2: 4-145522713-CAA-C
• gnomAD v3: 4-144601561-CAA-C
• gnomAD v4: 4-144601561-CAA-C
• MyVariant Identifiers: chr4:g.145522714_145522715del (hg19) ; chr4:g.144601562_144601563del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144601579_144601580del , CM000666.2:g.144601579_144601580del	GRCh38
NC_000004.11:g.145522731_145522732del , CM000666.1:g.145522731_145522732del	GRCh37
NC_000004.10:g.145742181_145742182del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-185585_328-185584del	ENSP00000497507.1:n.328-185585_328-185584del