Canonical Allele Identifier: CA1002505708

Gene: PGM1

Linked Data

• dbSNP Id: rs1649138898
• gnomAD v3: 1-63629612-CAG-C
• gnomAD v4: 1-63629612-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629613_63629614del , CM000663.2:g.63629613_63629614del	GRCh38
NC_000001.10:g.64095284_64095285del , CM000663.1:g.64095284_64095285del	GRCh37
NC_000001.9:g.63867872_63867873del	NCBI36
NG_016966.1:g.41338_41339del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.409+26_409+27del MANE Select	ENSP00000360125.3:n.409+26_409+27del
ENST00000650546.1:c.409+26_409+27del	ENSP00000497812.1:n.409+26_409+27del
ENST00000371083.4:c.463+26_463+27del	ENSP00000360124.4:n.463+26_463+27del
ENST00000371084.7:c.409+26_409+27del	ENSP00000360125.3:n.409+26_409+27del
ENST00000540265.5:c.-183+26_-183+27del	ENSP00000443449.1:n.-183+26_-183+27del
NM_001172818.1:c.463+26_463+27del	NP_001166289.1:n.463+26_463+27del
NM_001172819.1:c.-183+26_-183+27del	NP_001166290.1:n.-183+26_-183+27del
NM_002633.2:c.409+26_409+27del	NP_002624.2:n.409+26_409+27del
NM_002633.3:c.409+26_409+27del MANE Select	NP_002624.2:n.409+26_409+27del
NM_001172819.2:c.-183+26_-183+27del	NP_001166290.1:n.-183+26_-183+27del