Canonical Allele Identifier: CA555415620

Gene:

Linked Data

• dbSNP Id: rs1444400814
• gnomAD v2: 4-145480934-GT-G
• gnomAD v3: 4-144559782-GT-G
• gnomAD v4: 4-144559782-GT-G
• MyVariant Identifiers: chr4:g.145480935del (hg19) ; chr4:g.144559783del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144559784del , CM000666.2:g.144559784del	GRCh38
NC_000004.11:g.145480936del , CM000666.1:g.145480936del	GRCh37
NC_000004.10:g.145700386del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649263.1:c.328-143805del	ENSP00000497507.1:n.328-143805del
XR_939272.1:n.178+2201del
XR_939273.1:n.178+2201del
XR_939272.2:n.522+2201del
XR_939273.2:n.522+2201del