Canonical Allele Identifier: CA2803851368

Gene: BUB1B PAK6 BUB1B-PAK6

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.40220543_40220544insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC , CM000677.2:g.40220543_40220544insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC	GRCh38
NC_000015.9:g.40512744_40512745insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC , CM000677.1:g.40512744_40512745insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC	GRCh37
NC_000015.8:g.38300036_38300037insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC	NCBI36
NG_016338.1:g.64535_64536insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC , LRG_489:g.64535_64536insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC
NG_033169.1:g.8116_8117insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000287598.11:c.2958-21_2958-20insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B) MANE Select	ENSP00000287598.7:n.2958-21_2958-20insCATTTGACTCATGGTGGACAATT...
ENST00000453867.7:c.-118+2876_-118+2877insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (PAK6)	ENSP00000401153.3:n.-118+2876_-118+2877insCATTTGACTCATGGTGGAC...
ENST00000558658.6:c.-201+2876_-201+2877insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (PAK6)	ENSP00000456785.2:n.-201+2876_-201+2877insCATTTGACTCATGGTGGAC...
ENST00000287598.10:c.2958-21_2958-20insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B)	ENSP00000287598.6:n.2958-21_2958-20insCATTTGACTCATGGTGGACAATT...
ENST00000412359.7:c.3000-21_3000-20insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B)	ENSP00000398470.3:n.3000-21_3000-20insCATTTGACTCATGGTGGACAATT...
ENST00000441369.6:c.-201+2876_-201+2877insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B-PAK6)	ENSP00000406873.1:n.-201+2876_-201+2877insCATTTGACTCATGGTGGAC...
ENST00000453867.6:c.83+2876_83+2877insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B-PAK6)	ENSP00000401153.2:n.83+2876_83+2877insCATTTGACTCATGGTGGACAATT...
ENST00000558151.1:n.359-21_359-20insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B)
ENST00000558658.5:c.81+2876_81+2877insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B-PAK6)	ENSP00000456785.1:n.81+2876_81+2877insCATTTGACTCATGGTGGACAATT...
ENST00000559435.1:c.64-21_64-20insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B-PAK6)
NM_001128628.2:c.-201+2876_-201+2877insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (PAK6)	NP_001122100.1:n.-201+2876_-201+2877insCATTTGACTCATGGTGGACAAT...
NM_001128629.2:c.-118+2876_-118+2877insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (PAK6)	NP_001122101.1:n.-118+2876_-118+2877insCATTTGACTCATGGTGGACAAT...
NM_001211.5:c.2958-21_2958-20insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC , LRG_489t1:c.2958-21_2958-20insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B)	NP_001202.4:n.2958-21_2958-20insCATTTGACTCATGGTGGACAATTATTTAT...
XR_001751506.1:n.217+18941_217+18942insGTTTTTCTTTATCTGGCTTGGTATAATCGGCGATAAATAATTGTCCACCATGAGTCAAATG
NM_001128629.3:c.-118+2876_-118+2877insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B-PAK6)	NP_001122101.1:n.-118+2876_-118+2877insCATTTGACTCATGGTGGACAAT...
NM_001211.6:c.2958-21_2958-20insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B) MANE Select	NP_001202.5:n.2958-21_2958-20insCATTTGACTCATGGTGGACAATTATTTAT...
NM_001128628.3:c.-201+2876_-201+2877insCATTTGACTCATGGTGGACAATTATTTATCGCCGATTATACCAAGCCAGATAAAGAAAAAC (BUB1B-PAK6)	NP_001122100.1:n.-201+2876_-201+2877insCATTTGACTCATGGTGGACAAT...