Canonical Allele Identifier: CA1171568770

Gene: PGM1

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63623700_63623701delinsTG , CM000663.2:g.63623700_63623701delinsTG	GRCh38
NC_000001.10:g.64089371_64089372delinsTG , CM000663.1:g.64089371_64089372delinsTG	GRCh37
NC_000001.9:g.63861959_63861960delinsTG	NCBI36
NG_016966.1:g.35425_35426delinsTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-5725_247-5724delinsTG MANE Select	ENSP00000360125.3:n.247-5725_247-5724delinsTG
ENST00000650546.1:c.247-5725_247-5724delinsTG	ENSP00000497812.1:n.247-5725_247-5724delinsTG
ENST00000371083.4:c.240_241delinsTG	ENSP00000360124.4:p.Asp80=
ENST00000371084.7:c.247-5725_247-5724delinsTG	ENSP00000360125.3:n.247-5725_247-5724delinsTG
ENST00000540265.5:c.-345-5725_-345-5724delinsTG	ENSP00000443449.1:n.-345-5725_-345-5724delinsTG
NM_001172818.1:c.240_241delinsTG	NP_001166289.1:p.Asp80=
NM_001172819.1:c.-345-5725_-345-5724delinsTG	NP_001166290.1:n.-345-5725_-345-5724delinsTG
NM_002633.2:c.247-5725_247-5724delinsTG	NP_002624.2:n.247-5725_247-5724delinsTG
NM_002633.3:c.247-5725_247-5724delinsTG MANE Select	NP_002624.2:n.247-5725_247-5724delinsTG
NM_001172819.2:c.-345-5725_-345-5724delinsTG	NP_001166290.1:n.-345-5725_-345-5724delinsTG