Canonical Allele Identifier: CA2743892761

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629542_63629543dup , CM000663.2:g.63629542_63629543dup	GRCh38
NC_000001.10:g.64095213_64095214dup , CM000663.1:g.64095213_64095214dup	GRCh37
NC_000001.9:g.63867801_63867802dup	NCBI36
NG_016966.1:g.41267_41268dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.364_365dup MANE Select	ENSP00000360125.3:p.Pro123AlafsTer22
ENST00000650546.1:c.364_365dup	ENSP00000497812.1:p.Pro123AlafsTer22
ENST00000371083.4:c.418_419dup	ENSP00000360124.4:p.Pro141AlafsTer22
ENST00000371084.7:c.364_365dup	ENSP00000360125.3:p.Pro123AlafsTer22
ENST00000540265.5:c.-228_-227dup	ENSP00000443449.1:n.-228_-227dup
NM_001172818.1:c.418_419dup	NP_001166289.1:p.Pro141AlafsTer22
NM_001172819.1:c.-228_-227dup	NP_001166290.1:n.-228_-227dup
NM_002633.2:c.364_365dup	NP_002624.2:p.Pro123AlafsTer22
NM_002633.3:c.364_365dup MANE Select	NP_002624.2:p.Pro123AlafsTer22
NM_001172819.2:c.-228_-227dup	NP_001166290.1:n.-228_-227dup