Canonical Allele Identifier: CA645523574

Gene: PGM1

Linked Data

• gnomAD v4: 1-63629538-AG-A
• COSMIC: COSM5847147 ; COSM5847148

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.63629543del , CM000663.2:g.63629543del	GRCh38
NC_000001.10:g.64095214del , CM000663.1:g.64095214del	GRCh37
NC_000001.9:g.63867802del	NCBI36
NG_016966.1:g.41268del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000371084.8:c.365del MANE Select	ENSP00000360125.3:p.Gly122AlafsTer22
ENST00000650546.1:c.365del	ENSP00000497812.1:p.Gly122AlafsTer22
ENST00000371083.4:c.419del	ENSP00000360124.4:p.Gly140AlafsTer22
ENST00000371084.7:c.365del	ENSP00000360125.3:p.Gly122AlafsTer22
ENST00000540265.5:c.-227del	ENSP00000443449.1:n.-227del
NM_001172818.1:c.419del	NP_001166289.1:p.Gly140AlafsTer22
NM_001172819.1:c.-227del	NP_001166290.1:n.-227del
NM_002633.2:c.365del	NP_002624.2:p.Gly122AlafsTer22
NM_002633.3:c.365del MANE Select	NP_002624.2:p.Gly122AlafsTer22
NM_001172819.2:c.-227del	NP_001166290.1:n.-227del