Canonical Allele Identifier: CA1171571049

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629356_63629359delinsGTGT , CM000663.2:g.63629356_63629359delinsGTGT	GRCh38
NC_000001.10:g.64095027_64095030delinsGTGT , CM000663.1:g.64095027_64095030delinsGTGT	GRCh37
NC_000001.9:g.63867615_63867618delinsGTGT	NCBI36
NG_016966.1:g.41081_41084delinsGTGT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-69_247-66delinsGTGT MANE Select	ENSP00000360125.3:n.247-69_247-66delinsGTGT
ENST00000650546.1:c.247-69_247-66delinsGTGT	ENSP00000497812.1:n.247-69_247-66delinsGTGT
ENST00000371083.4:c.301-69_301-66delinsGTGT	ENSP00000360124.4:n.301-69_301-66delinsGTGT
ENST00000371084.7:c.247-69_247-66delinsGTGT	ENSP00000360125.3:n.247-69_247-66delinsGTGT
ENST00000540265.5:c.-345-69_-345-66delinsGTGT	ENSP00000443449.1:n.-345-69_-345-66delinsGTGT
NM_001172818.1:c.301-69_301-66delinsGTGT	NP_001166289.1:n.301-69_301-66delinsGTGT
NM_001172819.1:c.-345-69_-345-66delinsGTGT	NP_001166290.1:n.-345-69_-345-66delinsGTGT
NM_002633.2:c.247-69_247-66delinsGTGT	NP_002624.2:n.247-69_247-66delinsGTGT
NM_002633.3:c.247-69_247-66delinsGTGT MANE Select	NP_002624.2:n.247-69_247-66delinsGTGT
NM_001172819.2:c.-345-69_-345-66delinsGTGT	NP_001166290.1:n.-345-69_-345-66delinsGTGT