Canonical Allele Identifier: CA1171571060
Gene: PGM1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629398_63629399delinsGA , CM000663.2:g.63629398_63629399delinsGA GRCh38
NC_000001.10:g.64095069_64095070delinsGA , CM000663.1:g.64095069_64095070delinsGA GRCh37
NC_000001.9:g.63867657_63867658delinsGA NCBI36
NG_016966.1:g.41123_41124delinsGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-27_247-26delinsGA MANE Select ENSP00000360125.3:n.247-27_247-26delinsGA
ENST00000650546.1:c.247-27_247-26delinsGA ENSP00000497812.1:n.247-27_247-26delinsGA
ENST00000371083.4:c.301-27_301-26delinsGA ENSP00000360124.4:n.301-27_301-26delinsGA
ENST00000371084.7:c.247-27_247-26delinsGA ENSP00000360125.3:n.247-27_247-26delinsGA
ENST00000540265.5:c.-345-27_-345-26delinsGA ENSP00000443449.1:n.-345-27_-345-26delinsGA
NM_001172818.1:c.301-27_301-26delinsGA NP_001166289.1:n.301-27_301-26delinsGA
NM_001172819.1:c.-345-27_-345-26delinsGA NP_001166290.1:n.-345-27_-345-26delinsGA
NM_002633.2:c.247-27_247-26delinsGA NP_002624.2:n.247-27_247-26delinsGA
NM_002633.3:c.247-27_247-26delinsGA MANE Select NP_002624.2:n.247-27_247-26delinsGA
NM_001172819.2:c.-345-27_-345-26delinsGA NP_001166290.1:n.-345-27_-345-26delinsGA