Canonical Allele Identifier: CA2574393431

Gene: PGM1

Linked Data

• gnomAD v4: 1-63629626-TTCAGTAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629627_63629633del , CM000663.2:g.63629627_63629633del	GRCh38
NC_000001.10:g.64095298_64095304del , CM000663.1:g.64095298_64095304del	GRCh37
NC_000001.9:g.63867886_63867892del	NCBI36
NG_016966.1:g.41352_41358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.409+40_409+46del MANE Select	ENSP00000360125.3:n.409+40_409+46del
ENST00000650546.1:c.409+40_409+46del	ENSP00000497812.1:n.409+40_409+46del
ENST00000371083.4:c.463+40_463+46del	ENSP00000360124.4:n.463+40_463+46del
ENST00000371084.7:c.409+40_409+46del	ENSP00000360125.3:n.409+40_409+46del
ENST00000540265.5:c.-183+40_-183+46del	ENSP00000443449.1:n.-183+40_-183+46del
NM_001172818.1:c.463+40_463+46del	NP_001166289.1:n.463+40_463+46del
NM_001172819.1:c.-183+40_-183+46del	NP_001166290.1:n.-183+40_-183+46del
NM_002633.2:c.409+40_409+46del	NP_002624.2:n.409+40_409+46del
NM_002633.3:c.409+40_409+46del MANE Select	NP_002624.2:n.409+40_409+46del
NM_001172819.2:c.-183+40_-183+46del	NP_001166290.1:n.-183+40_-183+46del