Canonical Allele Identifier: CA2405440

Gene: GMPPB

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.49722165_49722168dup , CM000665.2:g.49722165_49722168dup	GRCh38
NC_000003.11:g.49759598_49759601dup , CM000665.1:g.49759598_49759601dup	GRCh37
NC_000003.10:g.49734602_49734605dup	NCBI36
NG_011603.1:g.37609_37612dup
NG_033731.1:g.6808_6811dup
NG_033731.2:g.6808_6811dup

Transcript Alleles

HGVS	Amino-acid Change
NM_021971.4:c.769-20_769-17dup MANE Select	NP_068806.2:n.769-20_769-17dup
ENST00000308388.7:c.769-20_769-17dup MANE Select	ENSP00000311130.6:n.769-20_769-17dup
NM_013334.3:c.769-20_769-17dup	NP_037466.2:n.769-20_769-17dup
NM_013334.4:c.769-20_769-17dup	NP_037466.3:n.769-20_769-17dup
NM_021971.2:c.769-20_769-17dup	NP_068806.1:n.769-20_769-17dup
ENST00000308375.10:c.769-20_769-17dup	ENSP00000309092.6:n.769-20_769-17dup
ENST00000308388.6:c.769-20_769-17dup	ENSP00000311130.6:n.769-20_769-17dup
ENST00000480687.5:c.769-20_769-17dup	ENSP00000418565.1:n.769-20_769-17dup
ENST00000481959.2:n.1342-20_1342-17dup
ENST00000495627.2:c.877-20_877-17dup	ENSP00000503768.1:n.877-20_877-17dup
ENST00000677393.1:c.562-20_562-17dup	ENSP00000503880.1:n.562-20_562-17dup
ENST00000678010.1:c.403-20_403-17dup	ENSP00000503176.1:n.403-20_403-17dup
ENST00000678208.1:n.1203-20_1203-17dup
ENST00000678853.1:c.*60-20_*60-17dup	ENSP00000504692.1:n.*60-20_*60-17dup