Canonical Allele Identifier: CA2580063743

Gene: BUB1

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.110650552dup , CM000664.2:g.110650552dup	GRCh38
NC_000002.11:g.111408129dup , CM000664.1:g.111408129dup	GRCh37
NC_000002.10:g.111124601dup	NCBI36
NG_012048.1:g.32555dup

Transcript Alleles

HGVS	Amino-acid Change
NM_004336.5:c.2197dup MANE Select	NP_004327.1:p.Ala733GlyfsTer12
ENST00000302759.11:c.2197dup MANE Select	ENSP00000302530.6:p.Ala733GlyfsTer12
NM_001278616.1:c.2137dup	NP_001265545.1:p.Ala713GlyfsTer12
NM_001278616.2:c.2137dup	NP_001265545.1:p.Ala713GlyfsTer12
NM_001278617.1:c.2197dup	NP_001265546.1:p.Ala733GlyfsTer12
NM_001278617.2:c.2197dup	NP_001265546.1:p.Ala733GlyfsTer12
NM_004336.4:c.2197dup	NP_004327.1:p.Ala733GlyfsTer12
ENST00000302759.10:c.2197dup	ENSP00000302530.6:p.Ala733GlyfsTer12
ENST00000409311.5:c.2197dup	ENSP00000386701.1:p.Ala733GlyfsTer12
ENST00000466333.5:n.2230dup
ENST00000490632.1:n.188dup
ENST00000535254.5:c.2137dup	ENSP00000441013.1:p.Ala713GlyfsTer12
ENST00000535254.6:c.2137dup	ENSP00000441013.1:p.Ala713GlyfsTer12
ENST00000671097.1:c.657dup
XR_923001.1:n.2296dup
XR_923001.3:n.2265dup