Canonical Allele Identifier: CA2646029394

Gene: PGM1

Linked Data

• gnomAD v4: 1-63648533-TGA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63648536_63648537del , CM000663.2:g.63648536_63648537del	GRCh38
NC_000001.10:g.64114207_64114208del , CM000663.1:g.64114207_64114208del	GRCh37
NC_000001.9:g.63886795_63886796del	NCBI36
NG_016966.1:g.60261_60262del

Transcript Alleles

HGVS	Amino-acid change
ENST00000371084.8:c.1164_1165del MANE Select	ENSP00000360125.3:p.Lys389ArgfsTer?
ENST00000650546.1:c.1164_1165del	ENSP00000497812.1:p.Lys389ArgfsTer?
ENST00000371083.4:c.1218_1219del	ENSP00000360124.4:p.Lys407ArgfsTer?
ENST00000371084.7:c.1164_1165del	ENSP00000360125.3:p.Lys389ArgfsTer?
ENST00000540265.5:c.573_574del	ENSP00000443449.1:p.Lys192ArgfsTer?
NM_001172818.1:c.1218_1219del	NP_001166289.1:p.Lys407ArgfsTer?
NM_001172819.1:c.573_574del	NP_001166290.1:p.Lys192ArgfsTer?
NM_002633.2:c.1164_1165del	NP_002624.2:p.Lys389ArgfsTer?
NM_002633.3:c.1164_1165del MANE Select	NP_002624.2:p.Lys389ArgfsTer?
NM_001172819.2:c.573_574del	NP_001166290.1:p.Lys192ArgfsTer?