Canonical Allele Identifier: CA2646028435
Gene: PGM1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.63629337_63629339del , CM000663.2:g.63629337_63629339del GRCh38
NC_000001.10:g.64095008_64095010del , CM000663.1:g.64095008_64095010del GRCh37
NC_000001.9:g.63867596_63867598del NCBI36
NG_016966.1:g.41062_41064del

Transcript Alleles

HGVS Amino-acid Change
ENST00000371084.8:c.247-88_247-86del MANE Select ENSP00000360125.3:n.247-88_247-86del
ENST00000650546.1:c.247-88_247-86del ENSP00000497812.1:n.247-88_247-86del
ENST00000371083.4:c.301-88_301-86del ENSP00000360124.4:n.301-88_301-86del
ENST00000371084.7:c.247-88_247-86del ENSP00000360125.3:n.247-88_247-86del
ENST00000540265.5:c.-345-88_-345-86del ENSP00000443449.1:n.-345-88_-345-86del
NM_001172818.1:c.301-88_301-86del NP_001166289.1:n.301-88_301-86del
NM_001172819.1:c.-345-88_-345-86del NP_001166290.1:n.-345-88_-345-86del
NM_002633.2:c.247-88_247-86del NP_002624.2:n.247-88_247-86del
NM_002633.3:c.247-88_247-86del MANE Select NP_002624.2:n.247-88_247-86del
NM_001172819.2:c.-345-88_-345-86del NP_001166290.1:n.-345-88_-345-86del