Canonical Allele Identifier: CA23828116

Gene: PGM1

Linked Data

• MyVariant Identifiers: chr1:g.64089356_64089357insT (hg19) ; chr1:g.63623685_63623686insT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63623685_63623686insT , CM000663.2:g.63623685_63623686insT	GRCh38
NC_000001.10:g.64089356_64089357insT , CM000663.1:g.64089356_64089357insT	GRCh37
NC_000001.9:g.63861944_63861945insT	NCBI36
NG_016966.1:g.35410_35411insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-5740_247-5739insT MANE Select	ENSP00000360125.3:n.247-5740_247-5739insT
ENST00000650546.1:c.247-5740_247-5739insT	ENSP00000497812.1:n.247-5740_247-5739insT
ENST00000371083.4:c.225_226insT	ENSP00000360124.4:p.Val76CysfsTer10
ENST00000371084.7:c.247-5740_247-5739insT	ENSP00000360125.3:n.247-5740_247-5739insT
ENST00000540265.5:c.-345-5740_-345-5739insT	ENSP00000443449.1:n.-345-5740_-345-5739insT
NM_001172818.1:c.225_226insT	NP_001166289.1:p.Val76CysfsTer10
NM_001172819.1:c.-345-5740_-345-5739insT	NP_001166290.1:n.-345-5740_-345-5739insT
NM_002633.2:c.247-5740_247-5739insT	NP_002624.2:n.247-5740_247-5739insT
NM_002633.3:c.247-5740_247-5739insT MANE Select	NP_002624.2:n.247-5740_247-5739insT
NM_001172819.2:c.-345-5740_-345-5739insT	NP_001166290.1:n.-345-5740_-345-5739insT