Canonical Allele Identifier: CA889758

Gene: PGM1

Linked Data

• dbSNP Id: rs769374473
• ExAC: 1:64114213 T / TG
• gnomAD v2: 1-64114213-T-TG
• gnomAD v3: 1-63648542-T-TG
• gnomAD v4: 1-63648542-T-TG
• MyVariant Identifiers: chr1:g.64114213_64114214insG (hg19) ; chr1:g.63648542_63648543insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648544dup , CM000663.2:g.63648544dup	GRCh38
NC_000001.10:g.64114215dup , CM000663.1:g.64114215dup	GRCh37
NC_000001.9:g.63886803dup	NCBI36
NG_016966.1:g.60269dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1172dup MANE Select	ENSP00000360125.3:p.Leu392ThrfsTer?
ENST00000650546.1:c.1172dup	ENSP00000497812.1:p.Leu392ThrfsTer?
ENST00000371083.4:c.1226dup	ENSP00000360124.4:p.Leu410ThrfsTer?
ENST00000371084.7:c.1172dup	ENSP00000360125.3:p.Leu392ThrfsTer?
ENST00000540265.5:c.581dup	ENSP00000443449.1:p.Leu195ThrfsTer?
NM_001172818.1:c.1226dup	NP_001166289.1:p.Leu410ThrfsTer?
NM_001172819.1:c.581dup	NP_001166290.1:p.Leu195ThrfsTer?
NM_002633.2:c.1172dup	NP_002624.2:p.Leu392ThrfsTer?
NM_002633.3:c.1172dup MANE Select	NP_002624.2:p.Leu392ThrfsTer?
NM_001172819.2:c.581dup	NP_001166290.1:p.Leu195ThrfsTer?