Canonical Allele Identifier: CA2574393406

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63623569_63623577del , CM000663.2:g.63623569_63623577del	GRCh38
NC_000001.10:g.64089240_64089248del , CM000663.1:g.64089240_64089248del	GRCh37
NC_000001.9:g.63861828_63861836del	NCBI36
NG_016966.1:g.35294_35302del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-5856_247-5848del MANE Select	ENSP00000360125.3:n.247-5856_247-5848del
ENST00000650546.1:c.247-5856_247-5848del	ENSP00000497812.1:n.247-5856_247-5848del
ENST00000371083.4:c.109_117del	ENSP00000360124.4:p.Thr37_Gly39del
ENST00000371084.7:c.247-5856_247-5848del	ENSP00000360125.3:n.247-5856_247-5848del
ENST00000540265.5:c.-345-5856_-345-5848del	ENSP00000443449.1:n.-345-5856_-345-5848del
NM_001172818.1:c.109_117del	NP_001166289.1:p.Thr37_Gly39del
NM_001172819.1:c.-345-5856_-345-5848del	NP_001166290.1:n.-345-5856_-345-5848del
NM_002633.2:c.247-5856_247-5848del	NP_002624.2:n.247-5856_247-5848del
NM_002633.3:c.247-5856_247-5848del MANE Select	NP_002624.2:n.247-5856_247-5848del
NM_001172819.2:c.-345-5856_-345-5848del	NP_001166290.1:n.-345-5856_-345-5848del