Canonical Allele Identifier: CA2646031089

Gene: PGM1

Linked Data

• gnomAD v4: 1-63623581-CGGAAGAAAACCTATTATTTTGA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63623586_63623607del , CM000663.2:g.63623586_63623607del	GRCh38
NC_000001.10:g.64089257_64089278del , CM000663.1:g.64089257_64089278del	GRCh37
NC_000001.9:g.63861845_63861866del	NCBI36
NG_016966.1:g.35311_35332del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.247-5839_247-5818del MANE Select	ENSP00000360125.3:n.247-5839_247-5818del
ENST00000650546.1:c.247-5839_247-5818del	ENSP00000497812.1:n.247-5839_247-5818del
ENST00000371083.4:c.126_147del	ENSP00000360124.4:p.Lys43SerfsTer16
ENST00000371084.7:c.247-5839_247-5818del	ENSP00000360125.3:n.247-5839_247-5818del
ENST00000540265.5:c.-345-5839_-345-5818del	ENSP00000443449.1:n.-345-5839_-345-5818del
NM_001172818.1:c.126_147del	NP_001166289.1:p.Lys43SerfsTer16
NM_001172819.1:c.-345-5839_-345-5818del	NP_001166290.1:n.-345-5839_-345-5818del
NM_002633.2:c.247-5839_247-5818del	NP_002624.2:n.247-5839_247-5818del
NM_002633.3:c.247-5839_247-5818del MANE Select	NP_002624.2:n.247-5839_247-5818del
NM_001172819.2:c.-345-5839_-345-5818del	NP_001166290.1:n.-345-5839_-345-5818del