Canonical Allele Identifier: CA1171571160

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629642_63629644delinsAAT , CM000663.2:g.63629642_63629644delinsAAT	GRCh38
NC_000001.10:g.64095313_64095315delinsAAT , CM000663.1:g.64095313_64095315delinsAAT	GRCh37
NC_000001.9:g.63867901_63867903delinsAAT	NCBI36
NG_016966.1:g.41367_41369delinsAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.409+55_409+57delinsAAT MANE Select	ENSP00000360125.3:n.409+55_409+57delinsAAT
ENST00000650546.1:c.409+55_409+57delinsAAT	ENSP00000497812.1:n.409+55_409+57delinsAAT
ENST00000371083.4:c.463+55_463+57delinsAAT	ENSP00000360124.4:n.463+55_463+57delinsAAT
ENST00000371084.7:c.409+55_409+57delinsAAT	ENSP00000360125.3:n.409+55_409+57delinsAAT
ENST00000540265.5:c.-183+55_-183+57delinsAAT	ENSP00000443449.1:n.-183+55_-183+57delinsAAT
NM_001172818.1:c.463+55_463+57delinsAAT	NP_001166289.1:n.463+55_463+57delinsAAT
NM_001172819.1:c.-183+55_-183+57delinsAAT	NP_001166290.1:n.-183+55_-183+57delinsAAT
NM_002633.2:c.409+55_409+57delinsAAT	NP_002624.2:n.409+55_409+57delinsAAT
NM_002633.3:c.409+55_409+57delinsAAT MANE Select	NP_002624.2:n.409+55_409+57delinsAAT
NM_001172819.2:c.-183+55_-183+57delinsAAT	NP_001166290.1:n.-183+55_-183+57delinsAAT