Canonical Allele Identifier: CA2627774596
Gene: BUB1B HGNC NCBI
PAK6 HGNC NCBI
BUB1B-PAK6 HGNC NCBI

Linked Data

gnomAD v4: 15-40220849-GAC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220853_40220854del , CM000677.2:g.40220853_40220854del GRCh38
NC_000015.9:g.40513054_40513055del , CM000677.1:g.40513054_40513055del GRCh37
NC_000015.8:g.38300346_38300347del NCBI36
NG_016338.1:g.64845_64846del , LRG_489:g.64845_64846del
NG_033169.1:g.8426_8427del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.*94_*95del (BUB1B) MANE Select ENSP00000287598.7:n.*94_*95del
ENST00000453867.7:c.-118+3186_-118+3187del (PAK6) ENSP00000401153.3:n.-118+3186_-118+3187del
ENST00000558658.6:c.-201+3186_-201+3187del (PAK6) ENSP00000456785.2:n.-201+3186_-201+3187del
ENST00000287598.10:c.*94_*95del (BUB1B) ENSP00000287598.6:n.*94_*95del
ENST00000412359.7:c.*94_*95del (BUB1B) ENSP00000398470.3:n.*94_*95del
ENST00000441369.6:c.-201+3186_-201+3187del (BUB1B-PAK6) ENSP00000406873.1:n.-201+3186_-201+3187del
ENST00000453867.6:c.83+3186_83+3187del (BUB1B-PAK6) ENSP00000401153.2:n.83+3186_83+3187del
ENST00000558658.5:c.81+3186_81+3187del (BUB1B-PAK6) ENSP00000456785.1:n.81+3186_81+3187del
ENST00000559435.1:c.217+136_217+137del (BUB1B-PAK6)
NM_001128628.2:c.-201+3186_-201+3187del (PAK6) NP_001122100.1:n.-201+3186_-201+3187del
NM_001128629.2:c.-118+3186_-118+3187del (PAK6) NP_001122101.1:n.-118+3186_-118+3187del
NM_001211.5:c.*94_*95del , LRG_489t1:c.*94_*95del (BUB1B) NP_001202.4:n.*94_*95del
XR_001751506.1:n.217+18634_217+18635del
NM_001128629.3:c.-118+3186_-118+3187del (BUB1B-PAK6) NP_001122101.1:n.-118+3186_-118+3187del
NM_001211.6:c.*94_*95del (BUB1B) MANE Select NP_001202.5:n.*94_*95del
NM_001128628.3:c.-201+3186_-201+3187del (BUB1B-PAK6) NP_001122100.1:n.-201+3186_-201+3187del
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