Canonical Allele Identifier: CA2171676995

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220802G= , CM000677.2:g.40220802G= GRCh38
NC_000015.9:g.40513003G= , CM000677.1:g.40513003G= GRCh37
NC_000015.8:g.38300295G= NCBI36
NG_016338.1:g.64794G= , LRG_489:g.64794G=
NG_033169.1:g.8375G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.*43G= (BUB1B) MANE Select ENSP00000287598.7:n.*43G=
ENST00000453867.7:c.-118+3135G= (PAK6) ENSP00000401153.3:n.-118+3135G=
ENST00000558658.6:c.-201+3135G= (PAK6) ENSP00000456785.2:n.-201+3135G=
ENST00000287598.10:c.*43G= (BUB1B) ENSP00000287598.6:n.*43G=
ENST00000412359.7:c.*43G= (BUB1B) ENSP00000398470.3:n.*43G=
ENST00000441369.6:c.-201+3135G= (BUB1B-PAK6) ENSP00000406873.1:n.-201+3135G=
ENST00000453867.6:c.83+3135G= (BUB1B-PAK6) ENSP00000401153.2:n.83+3135G=
ENST00000558658.5:c.81+3135G= (BUB1B-PAK6) ENSP00000456785.1:n.81+3135G=
ENST00000559435.1:c.217+85G= (BUB1B-PAK6)
NM_001128628.2:c.-201+3135G= (PAK6) NP_001122100.1:n.-201+3135G=
NM_001128629.2:c.-118+3135G= (PAK6) NP_001122101.1:n.-118+3135G=
NM_001211.5:c.*43G= , LRG_489t1:c.*43G= (BUB1B) NP_001202.4:n.*43G=
XR_001751506.1:n.217+18683C=
NM_001128629.3:c.-118+3135G= (BUB1B-PAK6) NP_001122101.1:n.-118+3135G=
NM_001211.6:c.*43G= (BUB1B) MANE Select NP_001202.5:n.*43G=
NM_001128628.3:c.-201+3135G= (BUB1B-PAK6) NP_001122100.1:n.-201+3135G=