Canonical Allele Identifier: CA1145067240

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629328_63629334delinsTTTTTTT , CM000663.2:g.63629328_63629334delinsTTTTTTT	GRCh38
NC_000001.10:g.64094999_64095005delinsTTTTTTT , CM000663.1:g.64094999_64095005delinsTTTTTTT	GRCh37
NC_000001.9:g.63867587_63867593delinsTTTTTTT	NCBI36
NG_016966.1:g.41053_41059delinsTTTTTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-97_247-91delinsTTTTTTT MANE Select	ENSP00000360125.3:n.247-97_247-91delinsTTTTTTT
ENST00000650546.1:c.247-97_247-91delinsTTTTTTT	ENSP00000497812.1:n.247-97_247-91delinsTTTTTTT
ENST00000371083.4:c.301-97_301-91delinsTTTTTTT	ENSP00000360124.4:n.301-97_301-91delinsTTTTTTT
ENST00000371084.7:c.247-97_247-91delinsTTTTTTT	ENSP00000360125.3:n.247-97_247-91delinsTTTTTTT
ENST00000540265.5:c.-345-97_-345-91delinsTTTTTTT	ENSP00000443449.1:n.-345-97_-345-91delinsTTTTTTT
NM_001172818.1:c.301-97_301-91delinsTTTTTTT	NP_001166289.1:n.301-97_301-91delinsTTTTTTT
NM_001172819.1:c.-345-97_-345-91delinsTTTTTTT	NP_001166290.1:n.-345-97_-345-91delinsTTTTTTT
NM_002633.2:c.247-97_247-91delinsTTTTTTT	NP_002624.2:n.247-97_247-91delinsTTTTTTT
NM_002633.3:c.247-97_247-91delinsTTTTTTT MANE Select	NP_002624.2:n.247-97_247-91delinsTTTTTTT
NM_001172819.2:c.-345-97_-345-91delinsTTTTTTT	NP_001166290.1:n.-345-97_-345-91delinsTTTTTTT