Canonical Allele Identifier: CA2580070113

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49723288del , CM000665.2:g.49723288del	GRCh38
NC_000003.11:g.49760721del , CM000665.1:g.49760721del	GRCh37
NC_000003.10:g.49735725del	NCBI36
NG_011603.1:g.38732del
NG_033731.1:g.5687del
NG_033731.2:g.5687del

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.225del MANE Select	NP_068806.2:p.Ser76ProfsTer?
ENST00000308388.7:c.225del MANE Select	ENSP00000311130.6:p.Ser76ProfsTer?
NM_013334.3:c.225del	NP_037466.2:p.Ser76ProfsTer?
NM_013334.4:c.225del	NP_037466.3:p.Ser76ProfsTer?
NM_021971.2:c.225del	NP_068806.1:p.Ser76ProfsTer?
ENST00000308375.10:c.225del	ENSP00000309092.6:p.Ser76ProfsTer?
ENST00000308388.6:c.225del	ENSP00000311130.6:p.Ser76ProfsTer?
ENST00000480687.5:c.225del	ENSP00000418565.1:p.Ser76ProfsTer?
ENST00000481959.1:n.527del
ENST00000481959.2:n.442del
ENST00000495627.1:n.415del
ENST00000495627.2:c.225del	ENSP00000503768.1:p.Ser76ProfsTer?
ENST00000677393.1:c.225del	ENSP00000503880.1:p.Ser76ProfsTer?
ENST00000678010.1:c.225del	ENSP00000503176.1:p.Ser76ProfsTer?
ENST00000678208.1:n.442del
ENST00000678853.1:c.225del	ENSP00000504692.1:p.Ser76ProfsTer?