Canonical Allele Identifier: CA2171677009

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220835G= , CM000677.2:g.40220835G= GRCh38
NC_000015.9:g.40513036G= , CM000677.1:g.40513036G= GRCh37
NC_000015.8:g.38300328G= NCBI36
NG_016338.1:g.64827G= , LRG_489:g.64827G=
NG_033169.1:g.8408G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.*76G= (BUB1B) MANE Select ENSP00000287598.7:n.*76G=
ENST00000453867.7:c.-118+3168G= (PAK6) ENSP00000401153.3:n.-118+3168G=
ENST00000558658.6:c.-201+3168G= (PAK6) ENSP00000456785.2:n.-201+3168G=
ENST00000287598.10:c.*76G= (BUB1B) ENSP00000287598.6:n.*76G=
ENST00000412359.7:c.*76G= (BUB1B) ENSP00000398470.3:n.*76G=
ENST00000441369.6:c.-201+3168G= (BUB1B-PAK6) ENSP00000406873.1:n.-201+3168G=
ENST00000453867.6:c.83+3168G= (BUB1B-PAK6) ENSP00000401153.2:n.83+3168G=
ENST00000558658.5:c.81+3168G= (BUB1B-PAK6) ENSP00000456785.1:n.81+3168G=
ENST00000559435.1:c.217+118G= (BUB1B-PAK6)
NM_001128628.2:c.-201+3168G= (PAK6) NP_001122100.1:n.-201+3168G=
NM_001128629.2:c.-118+3168G= (PAK6) NP_001122101.1:n.-118+3168G=
NM_001211.5:c.*76G= , LRG_489t1:c.*76G= (BUB1B) NP_001202.4:n.*76G=
XR_001751506.1:n.217+18650C=
NM_001128629.3:c.-118+3168G= (BUB1B-PAK6) NP_001122101.1:n.-118+3168G=
NM_001211.6:c.*76G= (BUB1B) MANE Select NP_001202.5:n.*76G=
NM_001128628.3:c.-201+3168G= (BUB1B-PAK6) NP_001122100.1:n.-201+3168G=