Canonical Allele Identifier: CA2171676982

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220772A= , CM000677.2:g.40220772A= GRCh38
NC_000015.9:g.40512973A= , CM000677.1:g.40512973A= GRCh37
NC_000015.8:g.38300265A= NCBI36
NG_016338.1:g.64764A= , LRG_489:g.64764A=
NG_033169.1:g.8345A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.*13A= (BUB1B) MANE Select ENSP00000287598.7:n.*13A=
ENST00000453867.7:c.-118+3105A= (PAK6) ENSP00000401153.3:n.-118+3105A=
ENST00000558658.6:c.-201+3105A= (PAK6) ENSP00000456785.2:n.-201+3105A=
ENST00000287598.10:c.*13A= (BUB1B) ENSP00000287598.6:n.*13A=
ENST00000412359.7:c.*13A= (BUB1B) ENSP00000398470.3:n.*13A=
ENST00000441369.6:c.-201+3105A= (BUB1B-PAK6) ENSP00000406873.1:n.-201+3105A=
ENST00000453867.6:c.83+3105A= (BUB1B-PAK6) ENSP00000401153.2:n.83+3105A=
ENST00000558658.5:c.81+3105A= (BUB1B-PAK6) ENSP00000456785.1:n.81+3105A=
ENST00000559435.1:c.217+55A= (BUB1B-PAK6)
NM_001128628.2:c.-201+3105A= (PAK6) NP_001122100.1:n.-201+3105A=
NM_001128629.2:c.-118+3105A= (PAK6) NP_001122101.1:n.-118+3105A=
NM_001211.5:c.*13A= , LRG_489t1:c.*13A= (BUB1B) NP_001202.4:n.*13A=
XR_001751506.1:n.217+18713T=
NM_001128629.3:c.-118+3105A= (BUB1B-PAK6) NP_001122101.1:n.-118+3105A=
NM_001211.6:c.*13A= (BUB1B) MANE Select NP_001202.5:n.*13A=
NM_001128628.3:c.-201+3105A= (BUB1B-PAK6) NP_001122100.1:n.-201+3105A=