Canonical Allele Identifier: CA2627774582
Gene: BUB1B HGNC NCBI
PAK6 HGNC NCBI
BUB1B-PAK6 HGNC NCBI

Linked Data

gnomAD v4: 15-40220821-AAACTGT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220823_40220828del , CM000677.2:g.40220823_40220828del GRCh38
NC_000015.9:g.40513024_40513029del , CM000677.1:g.40513024_40513029del GRCh37
NC_000015.8:g.38300316_38300321del NCBI36
NG_016338.1:g.64815_64820del , LRG_489:g.64815_64820del
NG_033169.1:g.8396_8401del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.*64_*69del (BUB1B) MANE Select ENSP00000287598.7:n.*64_*69del
ENST00000453867.7:c.-118+3156_-118+3161del (PAK6) ENSP00000401153.3:n.-118+3156_-118+3161del
ENST00000558658.6:c.-201+3156_-201+3161del (PAK6) ENSP00000456785.2:n.-201+3156_-201+3161del
ENST00000287598.10:c.*64_*69del (BUB1B) ENSP00000287598.6:n.*64_*69del
ENST00000412359.7:c.*64_*69del (BUB1B) ENSP00000398470.3:n.*64_*69del
ENST00000441369.6:c.-201+3156_-201+3161del (BUB1B-PAK6) ENSP00000406873.1:n.-201+3156_-201+3161del
ENST00000453867.6:c.83+3156_83+3161del (BUB1B-PAK6) ENSP00000401153.2:n.83+3156_83+3161del
ENST00000558658.5:c.81+3156_81+3161del (BUB1B-PAK6) ENSP00000456785.1:n.81+3156_81+3161del
ENST00000559435.1:c.217+106_217+111del (BUB1B-PAK6)
NM_001128628.2:c.-201+3156_-201+3161del (PAK6) NP_001122100.1:n.-201+3156_-201+3161del
NM_001128629.2:c.-118+3156_-118+3161del (PAK6) NP_001122101.1:n.-118+3156_-118+3161del
NM_001211.5:c.*64_*69del , LRG_489t1:c.*64_*69del (BUB1B) NP_001202.4:n.*64_*69del
XR_001751506.1:n.217+18658_217+18663del
NM_001128629.3:c.-118+3156_-118+3161del (BUB1B-PAK6) NP_001122101.1:n.-118+3156_-118+3161del
NM_001211.6:c.*64_*69del (BUB1B) MANE Select NP_001202.5:n.*64_*69del
NM_001128628.3:c.-201+3156_-201+3161del (BUB1B-PAK6) NP_001122100.1:n.-201+3156_-201+3161del
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