Canonical Allele Identifier: CA268763662
Gene: BUB1B HGNC NCBI
PAK6 HGNC NCBI
BUB1B-PAK6 HGNC NCBI

Linked Data

dbSNP Id: rs757105116
gnomAD v4: 15-40220814-AAC-A
MyVariant Identifiers: chr15:g.40513016_40513017del (hg19) chr15:g.40220815_40220816del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220817_40220818del , CM000677.2:g.40220817_40220818del GRCh38
NC_000015.9:g.40513018_40513019del , CM000677.1:g.40513018_40513019del GRCh37
NC_000015.8:g.38300310_38300311del NCBI36
NG_016338.1:g.64809_64810del , LRG_489:g.64809_64810del
NG_033169.1:g.8390_8391del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.*58_*59del (BUB1B) MANE Select ENSP00000287598.7:n.*58_*59del
ENST00000453867.7:c.-118+3150_-118+3151del (PAK6) ENSP00000401153.3:n.-118+3150_-118+3151del
ENST00000558658.6:c.-201+3150_-201+3151del (PAK6) ENSP00000456785.2:n.-201+3150_-201+3151del
ENST00000287598.10:c.*58_*59del (BUB1B) ENSP00000287598.6:n.*58_*59del
ENST00000412359.7:c.*58_*59del (BUB1B) ENSP00000398470.3:n.*58_*59del
ENST00000441369.6:c.-201+3150_-201+3151del (BUB1B-PAK6) ENSP00000406873.1:n.-201+3150_-201+3151del
ENST00000453867.6:c.83+3150_83+3151del (BUB1B-PAK6) ENSP00000401153.2:n.83+3150_83+3151del
ENST00000558658.5:c.81+3150_81+3151del (BUB1B-PAK6) ENSP00000456785.1:n.81+3150_81+3151del
ENST00000559435.1:c.217+100_217+101del (BUB1B-PAK6)
NM_001128628.2:c.-201+3150_-201+3151del (PAK6) NP_001122100.1:n.-201+3150_-201+3151del
NM_001128629.2:c.-118+3150_-118+3151del (PAK6) NP_001122101.1:n.-118+3150_-118+3151del
NM_001211.5:c.*58_*59del , LRG_489t1:c.*58_*59del (BUB1B) NP_001202.4:n.*58_*59del
XR_001751506.1:n.217+18669_217+18670del
NM_001128629.3:c.-118+3150_-118+3151del (BUB1B-PAK6) NP_001122101.1:n.-118+3150_-118+3151del
NM_001211.6:c.*58_*59del (BUB1B) MANE Select NP_001202.5:n.*58_*59del
NM_001128628.3:c.-201+3150_-201+3151del (BUB1B-PAK6) NP_001122100.1:n.-201+3150_-201+3151del
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