Canonical Allele Identifier: CA2573052208

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722094dup , CM000665.2:g.49722094dup	GRCh38
NC_000003.11:g.49759527dup , CM000665.1:g.49759527dup	GRCh37
NC_000003.10:g.49734531dup	NCBI36
NG_011603.1:g.37538dup
NG_033731.1:g.6883dup
NG_033731.2:g.6883dup

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.824dup MANE Select	NP_068806.2:p.Pro276ThrfsTer29
ENST00000308388.7:c.824dup MANE Select	ENSP00000311130.6:p.Pro276ThrfsTer29
NM_013334.3:c.824dup	NP_037466.2:p.Pro276ThrfsTer29
NM_013334.4:c.824dup	NP_037466.3:p.Pro276ThrfsTer29
NM_021971.2:c.824dup	NP_068806.1:p.Pro276ThrfsTer29
ENST00000308375.10:c.824dup	ENSP00000309092.6:p.Pro276ThrfsTer29
ENST00000308388.6:c.824dup	ENSP00000311130.6:p.Pro276ThrfsTer29
ENST00000480687.5:c.824dup	ENSP00000418565.1:p.Pro276ThrfsTer29
ENST00000481959.2:n.1397dup
ENST00000495627.2:c.932dup	ENSP00000503768.1:p.Pro312ThrfsTer29
ENST00000677393.1:c.617dup	ENSP00000503880.1:p.Pro207ThrfsTer29
ENST00000678010.1:c.458dup	ENSP00000503176.1:p.Pro154ThrfsTer29
ENST00000678208.1:n.1258dup
ENST00000678853.1:c.*115dup	ENSP00000504692.1:n.*115dup