Canonical Allele Identifier: CA2171677015

Gene: BUB1B PAK6 BUB1B-PAK6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40220854_40220855delinsAT , CM000677.2:g.40220854_40220855delinsAT	GRCh38
NC_000015.9:g.40513055_40513056delinsAT , CM000677.1:g.40513055_40513056delinsAT	GRCh37
NC_000015.8:g.38300347_38300348delinsAT	NCBI36
NG_016338.1:g.64846_64847delinsAT , LRG_489:g.64846_64847delinsAT
NG_033169.1:g.8427_8428delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.*95_*96delinsAT (BUB1B) MANE Select	ENSP00000287598.7:n.*95_*96delinsAT
ENST00000453867.7:c.-118+3187_-118+3188delinsAT (PAK6)	ENSP00000401153.3:n.-118+3187_-118+3188delinsAT
ENST00000558658.6:c.-201+3187_-201+3188delinsAT (PAK6)	ENSP00000456785.2:n.-201+3187_-201+3188delinsAT
ENST00000287598.10:c.*95_*96delinsAT (BUB1B)	ENSP00000287598.6:n.*95_*96delinsAT
ENST00000412359.7:c.*95_*96delinsAT (BUB1B)	ENSP00000398470.3:n.*95_*96delinsAT
ENST00000441369.6:c.-201+3187_-201+3188delinsAT (BUB1B-PAK6)	ENSP00000406873.1:n.-201+3187_-201+3188delinsAT
ENST00000453867.6:c.83+3187_83+3188delinsAT (BUB1B-PAK6)	ENSP00000401153.2:n.83+3187_83+3188delinsAT
ENST00000558658.5:c.81+3187_81+3188delinsAT (BUB1B-PAK6)	ENSP00000456785.1:n.81+3187_81+3188delinsAT
ENST00000559435.1:c.217+137_217+138delinsAT (BUB1B-PAK6)
NM_001128628.2:c.-201+3187_-201+3188delinsAT (PAK6)	NP_001122100.1:n.-201+3187_-201+3188delinsAT
NM_001128629.2:c.-118+3187_-118+3188delinsAT (PAK6)	NP_001122101.1:n.-118+3187_-118+3188delinsAT
NM_001211.5:c.*95_*96delinsAT , LRG_489t1:c.*95_*96delinsAT (BUB1B)	NP_001202.4:n.*95_*96delinsAT
XR_001751506.1:n.217+18630_217+18631delinsAT
NM_001128629.3:c.-118+3187_-118+3188delinsAT (BUB1B-PAK6)	NP_001122101.1:n.-118+3187_-118+3188delinsAT
NM_001211.6:c.*95_*96delinsAT (BUB1B) MANE Select	NP_001202.5:n.*95_*96delinsAT
NM_001128628.3:c.-201+3187_-201+3188delinsAT (BUB1B-PAK6)	NP_001122100.1:n.-201+3187_-201+3188delinsAT