Canonical Allele Identifier: CA2740094435

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49723314_49723315dup , CM000665.2:g.49723314_49723315dup	GRCh38
NC_000003.11:g.49760747_49760748dup , CM000665.1:g.49760747_49760748dup	GRCh37
NC_000003.10:g.49735751_49735752dup	NCBI36
NG_011603.1:g.38758_38759dup
NG_033731.1:g.5662_5663dup
NG_033731.2:g.5662_5663dup

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.211-11_211-10dup MANE Select	NP_068806.2:n.211-11_211-10dup
ENST00000308388.7:c.211-11_211-10dup MANE Select	ENSP00000311130.6:n.211-11_211-10dup
NM_013334.3:c.211-11_211-10dup	NP_037466.2:n.211-11_211-10dup
NM_013334.4:c.211-11_211-10dup	NP_037466.3:n.211-11_211-10dup
NM_021971.2:c.211-11_211-10dup	NP_068806.1:n.211-11_211-10dup
ENST00000308375.10:c.211-11_211-10dup	ENSP00000309092.6:n.211-11_211-10dup
ENST00000308388.6:c.211-11_211-10dup	ENSP00000311130.6:n.211-11_211-10dup
ENST00000480687.5:c.211-11_211-10dup	ENSP00000418565.1:n.211-11_211-10dup
ENST00000481959.1:n.502_503dup
ENST00000481959.2:n.428-11_428-10dup
ENST00000495627.1:n.401-11_401-10dup
ENST00000495627.2:c.211-11_211-10dup	ENSP00000503768.1:n.211-11_211-10dup
ENST00000677393.1:c.211-11_211-10dup	ENSP00000503880.1:n.211-11_211-10dup
ENST00000678010.1:c.211-11_211-10dup	ENSP00000503176.1:n.211-11_211-10dup
ENST00000678208.1:n.428-11_428-10dup
ENST00000678853.1:c.211-11_211-10dup	ENSP00000504692.1:n.211-11_211-10dup