Canonical Allele Identifier: CA1002505721

Gene: PGM1

Linked Data

• dbSNP Id: rs1649140704
• gnomAD v3: 1-63629642-AAT-A
• gnomAD v4: 1-63629642-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629644_63629645del , CM000663.2:g.63629644_63629645del	GRCh38
NC_000001.10:g.64095315_64095316del , CM000663.1:g.64095315_64095316del	GRCh37
NC_000001.9:g.63867903_63867904del	NCBI36
NG_016966.1:g.41369_41370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.409+57_409+58del MANE Select	ENSP00000360125.3:n.409+57_409+58del
ENST00000650546.1:c.409+57_409+58del	ENSP00000497812.1:n.409+57_409+58del
ENST00000371083.4:c.463+57_463+58del	ENSP00000360124.4:n.463+57_463+58del
ENST00000371084.7:c.409+57_409+58del	ENSP00000360125.3:n.409+57_409+58del
ENST00000540265.5:c.-183+57_-183+58del	ENSP00000443449.1:n.-183+57_-183+58del
NM_001172818.1:c.463+57_463+58del	NP_001166289.1:n.463+57_463+58del
NM_001172819.1:c.-183+57_-183+58del	NP_001166290.1:n.-183+57_-183+58del
NM_002633.2:c.409+57_409+58del	NP_002624.2:n.409+57_409+58del
NM_002633.3:c.409+57_409+58del MANE Select	NP_002624.2:n.409+57_409+58del
NM_001172819.2:c.-183+57_-183+58del	NP_001166290.1:n.-183+57_-183+58del