Canonical Allele Identifier: CA1047775044

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722067_49722068del , CM000665.2:g.49722067_49722068del	GRCh38
NC_000003.11:g.49759500_49759501del , CM000665.1:g.49759500_49759501del	GRCh37
NC_000003.10:g.49734504_49734505del	NCBI36
NG_011603.1:g.37511_37512del
NG_033731.1:g.6913_6914del
NG_033731.2:g.6913_6914del

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.854_855del MANE Select	NP_068806.2:p.Cys285TyrfsTer19
ENST00000308388.7:c.854_855del MANE Select	ENSP00000311130.6:p.Cys285TyrfsTer19
NM_013334.3:c.854_855del	NP_037466.2:p.Cys285TyrfsTer19
NM_013334.4:c.854_855del	NP_037466.3:p.Cys285TyrfsTer19
NM_021971.2:c.854_855del	NP_068806.1:p.Cys285TyrfsTer19
ENST00000308375.10:c.854_855del	ENSP00000309092.6:p.Cys285TyrfsTer19
ENST00000308388.6:c.854_855del	ENSP00000311130.6:p.Cys285TyrfsTer19
ENST00000480687.5:c.854_855del	ENSP00000418565.1:p.Cys285TyrfsTer19
ENST00000481959.2:n.1427_1428del
ENST00000495627.2:c.962_963del	ENSP00000503768.1:p.Cys321TyrfsTer19
ENST00000677393.1:c.647_648del	ENSP00000503880.1:p.Cys216TyrfsTer19
ENST00000678010.1:c.488_489del	ENSP00000503176.1:p.Cys163TyrfsTer19
ENST00000678208.1:n.1288_1289del
ENST00000678853.1:c.*145_*146del	ENSP00000504692.1:n.*145_*146del