Canonical Allele Identifier: CA107748607

Gene:

Linked Data

• dbSNP Id: rs923506054
• gnomAD v2: 4-145480597-TG-T
• gnomAD v3: 4-144559445-TG-T
• gnomAD v4: 4-144559445-TG-T
• MyVariant Identifiers: chr4:g.145480598del (hg19) ; chr4:g.144559446del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559451del , CM000666.2:g.144559451del	GRCh38
NC_000004.11:g.145480603del , CM000666.1:g.145480603del	GRCh37
NC_000004.10:g.145700053del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143468del	ENSP00000497507.1:n.328-143468del
XR_939272.1:n.178+2538del
XR_939273.1:n.178+2538del
XR_939272.2:n.522+2538del
XR_939273.2:n.522+2538del