Canonical Allele Identifier: CA1171571144

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629612_63629614delinsCAG , CM000663.2:g.63629612_63629614delinsCAG	GRCh38
NC_000001.10:g.64095283_64095285delinsCAG , CM000663.1:g.64095283_64095285delinsCAG	GRCh37
NC_000001.9:g.63867871_63867873delinsCAG	NCBI36
NG_016966.1:g.41337_41339delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.409+25_409+27delinsCAG MANE Select	ENSP00000360125.3:n.409+25_409+27delinsCAG
ENST00000650546.1:c.409+25_409+27delinsCAG	ENSP00000497812.1:n.409+25_409+27delinsCAG
ENST00000371083.4:c.463+25_463+27delinsCAG	ENSP00000360124.4:n.463+25_463+27delinsCAG
ENST00000371084.7:c.409+25_409+27delinsCAG	ENSP00000360125.3:n.409+25_409+27delinsCAG
ENST00000540265.5:c.-183+25_-183+27delinsCAG	ENSP00000443449.1:n.-183+25_-183+27delinsCAG
NM_001172818.1:c.463+25_463+27delinsCAG	NP_001166289.1:n.463+25_463+27delinsCAG
NM_001172819.1:c.-183+25_-183+27delinsCAG	NP_001166290.1:n.-183+25_-183+27delinsCAG
NM_002633.2:c.409+25_409+27delinsCAG	NP_002624.2:n.409+25_409+27delinsCAG
NM_002633.3:c.409+25_409+27delinsCAG MANE Select	NP_002624.2:n.409+25_409+27delinsCAG
NM_001172819.2:c.-183+25_-183+27delinsCAG	NP_001166290.1:n.-183+25_-183+27delinsCAG