Canonical Allele Identifier: CA543050842

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49721863dup , CM000665.2:g.49721863dup	GRCh38
NC_000003.11:g.49759296dup , CM000665.1:g.49759296dup	GRCh37
NC_000003.10:g.49734300dup	NCBI36
NG_011603.1:g.37307dup
NG_033731.1:g.7112dup
NG_033731.2:g.7112dup

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.972dup MANE Select	NP_068806.2:p.Val325SerfsTer4
ENST00000308388.7:c.972dup MANE Select	ENSP00000311130.6:p.Val325SerfsTer4
NM_013334.3:c.1053dup	NP_037466.2:p.Val352SerfsTer4
NM_013334.4:c.1053dup	NP_037466.3:p.Val352SerfsTer4
NM_021971.2:c.972dup	NP_068806.1:p.Val325SerfsTer4
ENST00000308375.10:c.1053dup	ENSP00000309092.6:p.Val352SerfsTer4
ENST00000308388.6:c.972dup	ENSP00000311130.6:p.Val325SerfsTer4
ENST00000480687.5:c.972dup	ENSP00000418565.1:p.Val325SerfsTer4
ENST00000481959.2:n.1545dup
ENST00000495627.2:c.1080dup	ENSP00000503768.1:p.Val361SerfsTer4
ENST00000677393.1:c.757dup	ENSP00000503880.1:p.Ser253LysfsTer8
ENST00000678010.1:c.606dup	ENSP00000503176.1:p.Val203SerfsTer4
ENST00000678208.1:n.1406dup
ENST00000678853.1:c.*263dup	ENSP00000504692.1:n.*263dup