Canonical Allele Identifier: CA712739271
Gene: BUB1B HGNC NCBI
PAK6 HGNC NCBI
BUB1B-PAK6 HGNC NCBI

Linked Data

dbSNP Id: rs1331578132
gnomAD v3: 15-40220135-GTAGT-G
gnomAD v4: 15-40220135-GTAGT-G
MyVariant Identifiers: chr15:g.40512337_40512340del (hg19) chr15:g.40220136_40220139del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220141_40220144del , CM000677.2:g.40220141_40220144del GRCh38
NC_000015.9:g.40512342_40512345del , CM000677.1:g.40512342_40512345del GRCh37
NC_000015.8:g.38299634_38299637del NCBI36
NG_016338.1:g.64133_64136del , LRG_489:g.64133_64136del
NG_033169.1:g.7714_7717del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.2958-423_2958-420del (BUB1B) MANE Select ENSP00000287598.7:n.2958-423_2958-420del
ENST00000453867.7:c.-118+2474_-118+2477del (PAK6) ENSP00000401153.3:n.-118+2474_-118+2477del
ENST00000558658.6:c.-201+2474_-201+2477del (PAK6) ENSP00000456785.2:n.-201+2474_-201+2477del
ENST00000287598.10:c.2958-423_2958-420del (BUB1B) ENSP00000287598.6:n.2958-423_2958-420del
ENST00000412359.7:c.3000-423_3000-420del (BUB1B) ENSP00000398470.3:n.3000-423_3000-420del
ENST00000441369.6:c.-201+2474_-201+2477del (BUB1B-PAK6) ENSP00000406873.1:n.-201+2474_-201+2477del
ENST00000453867.6:c.83+2474_83+2477del (BUB1B-PAK6) ENSP00000401153.2:n.83+2474_83+2477del
ENST00000558151.1:n.359-423_359-420del (BUB1B)
ENST00000558658.5:c.81+2474_81+2477del (BUB1B-PAK6) ENSP00000456785.1:n.81+2474_81+2477del
ENST00000559435.1:c.64-423_64-420del (BUB1B-PAK6)
NM_001128628.2:c.-201+2474_-201+2477del (PAK6) NP_001122100.1:n.-201+2474_-201+2477del
NM_001128629.2:c.-118+2474_-118+2477del (PAK6) NP_001122101.1:n.-118+2474_-118+2477del
NM_001211.5:c.2958-423_2958-420del , LRG_489t1:c.2958-423_2958-420del (BUB1B) NP_001202.4:n.2958-423_2958-420del
XR_001751506.1:n.217+19346_217+19349del
NM_001128629.3:c.-118+2474_-118+2477del (BUB1B-PAK6) NP_001122101.1:n.-118+2474_-118+2477del
NM_001211.6:c.2958-423_2958-420del (BUB1B) MANE Select NP_001202.5:n.2958-423_2958-420del
NM_001128628.3:c.-201+2474_-201+2477del (BUB1B-PAK6) NP_001122100.1:n.-201+2474_-201+2477del
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