Canonical Allele Identifier: CA1171571036
Gene: PGM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629326_63629327delinsTA , CM000663.2:g.63629326_63629327delinsTA GRCh38
NC_000001.10:g.64094997_64094998delinsTA , CM000663.1:g.64094997_64094998delinsTA GRCh37
NC_000001.9:g.63867585_63867586delinsTA NCBI36
NG_016966.1:g.41051_41052delinsTA

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-99_247-98delinsTA MANE Select ENSP00000360125.3:n.247-99_247-98delinsTA
ENST00000650546.1:c.247-99_247-98delinsTA ENSP00000497812.1:n.247-99_247-98delinsTA
ENST00000371083.4:c.301-99_301-98delinsTA ENSP00000360124.4:n.301-99_301-98delinsTA
ENST00000371084.7:c.247-99_247-98delinsTA ENSP00000360125.3:n.247-99_247-98delinsTA
ENST00000540265.5:c.-345-99_-345-98delinsTA ENSP00000443449.1:n.-345-99_-345-98delinsTA
NM_001172818.1:c.301-99_301-98delinsTA NP_001166289.1:n.301-99_301-98delinsTA
NM_001172819.1:c.-345-99_-345-98delinsTA NP_001166290.1:n.-345-99_-345-98delinsTA
NM_002633.2:c.247-99_247-98delinsTA NP_002624.2:n.247-99_247-98delinsTA
NM_002633.3:c.247-99_247-98delinsTA MANE Select NP_002624.2:n.247-99_247-98delinsTA
NM_001172819.2:c.-345-99_-345-98delinsTA NP_001166290.1:n.-345-99_-345-98delinsTA