Canonical Allele Identifier: CA617556492
Gene: BUB1B HGNC NCBI
PAK6 HGNC NCBI
BUB1B-PAK6 HGNC NCBI

Linked Data

dbSNP Id: rs1173278193
gnomAD v2: 15-40512771-AGAT-A
gnomAD v4: 15-40220570-AGAT-A
MyVariant Identifiers: chr15:g.40512772_40512774del (hg19) chr15:g.40220571_40220573del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220572_40220574del , CM000677.2:g.40220572_40220574del GRCh38
NC_000015.9:g.40512773_40512775del , CM000677.1:g.40512773_40512775del GRCh37
NC_000015.8:g.38300065_38300067del NCBI36
NG_016338.1:g.64564_64566del , LRG_489:g.64564_64566del
NG_033169.1:g.8145_8147del

Transcript Alleles

HGVS Amino-acid change
ENST00000287598.11:c.2966_2968del (BUB1B) MANE Select ENSP00000287598.7:p.Asp989del
ENST00000453867.7:c.-118+2905_-118+2907del (PAK6) ENSP00000401153.3:n.-118+2905_-118+2907del
ENST00000558658.6:c.-201+2905_-201+2907del (PAK6) ENSP00000456785.2:n.-201+2905_-201+2907del
ENST00000287598.10:c.2966_2968del (BUB1B) ENSP00000287598.6:p.Asp989del
ENST00000412359.7:c.3008_3010del (BUB1B) ENSP00000398470.3:p.Asp1003del
ENST00000441369.6:c.-201+2905_-201+2907del (BUB1B-PAK6) ENSP00000406873.1:n.-201+2905_-201+2907del
ENST00000453867.6:c.83+2905_83+2907del (BUB1B-PAK6) ENSP00000401153.2:n.83+2905_83+2907del
ENST00000558151.1:n.367_369del (BUB1B)
ENST00000558658.5:c.81+2905_81+2907del (BUB1B-PAK6) ENSP00000456785.1:n.81+2905_81+2907del
ENST00000559435.1:c.72_74del (BUB1B-PAK6)
NM_001128628.2:c.-201+2905_-201+2907del (PAK6) NP_001122100.1:n.-201+2905_-201+2907del
NM_001128629.2:c.-118+2905_-118+2907del (PAK6) NP_001122101.1:n.-118+2905_-118+2907del
NM_001211.5:c.2966_2968del , LRG_489t1:c.2966_2968del (BUB1B) NP_001202.4:p.Asp989del
XR_001751506.1:n.217+18912_217+18914del
NM_001128629.3:c.-118+2905_-118+2907del (BUB1B-PAK6) NP_001122101.1:n.-118+2905_-118+2907del
NM_001211.6:c.2966_2968del (BUB1B) MANE Select NP_001202.5:p.Asp989del
NM_001128628.3:c.-201+2905_-201+2907del (BUB1B-PAK6) NP_001122100.1:n.-201+2905_-201+2907del
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