Canonical Allele Identifier: CA2574393427

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629532_63629533del , CM000663.2:g.63629532_63629533del	GRCh38
NC_000001.10:g.64095203_64095204del , CM000663.1:g.64095203_64095204del	GRCh37
NC_000001.9:g.63867791_63867792del	NCBI36
NG_016966.1:g.41257_41258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.354_355del MANE Select	ENSP00000360125.3:p.His118GlnfsTer17
ENST00000650546.1:c.354_355del	ENSP00000497812.1:p.His118GlnfsTer17
ENST00000371083.4:c.408_409del	ENSP00000360124.4:p.His136GlnfsTer17
ENST00000371084.7:c.354_355del	ENSP00000360125.3:p.His118GlnfsTer17
ENST00000540265.5:c.-238_-237del	ENSP00000443449.1:n.-238_-237del
NM_001172818.1:c.408_409del	NP_001166289.1:p.His136GlnfsTer17
NM_001172819.1:c.-238_-237del	NP_001166290.1:n.-238_-237del
NM_002633.2:c.354_355del	NP_002624.2:p.His118GlnfsTer17
NM_002633.3:c.354_355del MANE Select	NP_002624.2:p.His118GlnfsTer17
NM_001172819.2:c.-238_-237del	NP_001166290.1:n.-238_-237del