Canonical Allele Identifier: CA2171676740

Gene: BUB1B PAK6 BUB1B-PAK6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40220175_40220178delinsAAAG , CM000677.2:g.40220175_40220178delinsAAAG	GRCh38
NC_000015.9:g.40512376_40512379delinsAAAG , CM000677.1:g.40512376_40512379delinsAAAG	GRCh37
NC_000015.8:g.38299668_38299671delinsAAAG	NCBI36
NG_016338.1:g.64167_64170delinsAAAG , LRG_489:g.64167_64170delinsAAAG
NG_033169.1:g.7748_7751delinsAAAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.2958-389_2958-386delinsAAAG (BUB1B) MANE Select	ENSP00000287598.7:n.2958-389_2958-386delinsAAAG
ENST00000453867.7:c.-118+2508_-118+2511delinsAAAG (PAK6)	ENSP00000401153.3:n.-118+2508_-118+2511delinsAAAG
ENST00000558658.6:c.-201+2508_-201+2511delinsAAAG (PAK6)	ENSP00000456785.2:n.-201+2508_-201+2511delinsAAAG
ENST00000287598.10:c.2958-389_2958-386delinsAAAG (BUB1B)	ENSP00000287598.6:n.2958-389_2958-386delinsAAAG
ENST00000412359.7:c.3000-389_3000-386delinsAAAG (BUB1B)	ENSP00000398470.3:n.3000-389_3000-386delinsAAAG
ENST00000441369.6:c.-201+2508_-201+2511delinsAAAG (BUB1B-PAK6)	ENSP00000406873.1:n.-201+2508_-201+2511delinsAAAG
ENST00000453867.6:c.83+2508_83+2511delinsAAAG (BUB1B-PAK6)	ENSP00000401153.2:n.83+2508_83+2511delinsAAAG
ENST00000558151.1:n.359-389_359-386delinsAAAG (BUB1B)
ENST00000558658.5:c.81+2508_81+2511delinsAAAG (BUB1B-PAK6)	ENSP00000456785.1:n.81+2508_81+2511delinsAAAG
ENST00000559435.1:c.64-389_64-386delinsAAAG (BUB1B-PAK6)
NM_001128628.2:c.-201+2508_-201+2511delinsAAAG (PAK6)	NP_001122100.1:n.-201+2508_-201+2511delinsAAAG
NM_001128629.2:c.-118+2508_-118+2511delinsAAAG (PAK6)	NP_001122101.1:n.-118+2508_-118+2511delinsAAAG
NM_001211.5:c.2958-389_2958-386delinsAAAG , LRG_489t1:c.2958-389_2958-386delinsAAAG (BUB1B)	NP_001202.4:n.2958-389_2958-386delinsAAAG
XR_001751506.1:n.217+19307_217+19310delinsCTTT
NM_001128629.3:c.-118+2508_-118+2511delinsAAAG (BUB1B-PAK6)	NP_001122101.1:n.-118+2508_-118+2511delinsAAAG
NM_001211.6:c.2958-389_2958-386delinsAAAG (BUB1B) MANE Select	NP_001202.5:n.2958-389_2958-386delinsAAAG
NM_001128628.3:c.-201+2508_-201+2511delinsAAAG (BUB1B-PAK6)	NP_001122100.1:n.-201+2508_-201+2511delinsAAAG