Canonical Allele Identifier: CA2575676926
Gene: BUB1B HGNC NCBI
PAK6 HGNC NCBI
BUB1B-PAK6 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220826_40220827del , CM000677.2:g.40220826_40220827del GRCh38
NC_000015.9:g.40513027_40513028del , CM000677.1:g.40513027_40513028del GRCh37
NC_000015.8:g.38300319_38300320del NCBI36
NG_016338.1:g.64818_64819del , LRG_489:g.64818_64819del
NG_033169.1:g.8399_8400del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.*67_*68del (BUB1B) MANE Select ENSP00000287598.7:n.*67_*68del
ENST00000453867.7:c.-118+3159_-118+3160del (PAK6) ENSP00000401153.3:n.-118+3159_-118+3160del
ENST00000558658.6:c.-201+3159_-201+3160del (PAK6) ENSP00000456785.2:n.-201+3159_-201+3160del
ENST00000287598.10:c.*67_*68del (BUB1B) ENSP00000287598.6:n.*67_*68del
ENST00000412359.7:c.*67_*68del (BUB1B) ENSP00000398470.3:n.*67_*68del
ENST00000441369.6:c.-201+3159_-201+3160del (BUB1B-PAK6) ENSP00000406873.1:n.-201+3159_-201+3160del
ENST00000453867.6:c.83+3159_83+3160del (BUB1B-PAK6) ENSP00000401153.2:n.83+3159_83+3160del
ENST00000558658.5:c.81+3159_81+3160del (BUB1B-PAK6) ENSP00000456785.1:n.81+3159_81+3160del
ENST00000559435.1:c.217+109_217+110del (BUB1B-PAK6)
NM_001128628.2:c.-201+3159_-201+3160del (PAK6) NP_001122100.1:n.-201+3159_-201+3160del
NM_001128629.2:c.-118+3159_-118+3160del (PAK6) NP_001122101.1:n.-118+3159_-118+3160del
NM_001211.5:c.*67_*68del , LRG_489t1:c.*67_*68del (BUB1B) NP_001202.4:n.*67_*68del
XR_001751506.1:n.217+18659_217+18660del
NM_001128629.3:c.-118+3159_-118+3160del (BUB1B-PAK6) NP_001122101.1:n.-118+3159_-118+3160del
NM_001211.6:c.*67_*68del (BUB1B) MANE Select NP_001202.5:n.*67_*68del
NM_001128628.3:c.-201+3159_-201+3160del (BUB1B-PAK6) NP_001122100.1:n.-201+3159_-201+3160del
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