Canonical Allele Identifier: CA617223857
Gene: BUB1B HGNC NCBI
PAK6 HGNC NCBI
BUB1B-PAK6 HGNC NCBI

Linked Data

dbSNP Id: rs1275929037
gnomAD v2: 15-40512376-AAAG-A
gnomAD v3: 15-40220175-AAAG-A
gnomAD v4: 15-40220175-AAAG-A
MyVariant Identifiers: chr15:g.40512377_40512379del (hg19) chr15:g.40220176_40220178del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220180_40220182del , CM000677.2:g.40220180_40220182del GRCh38
NC_000015.9:g.40512381_40512383del , CM000677.1:g.40512381_40512383del GRCh37
NC_000015.8:g.38299673_38299675del NCBI36
NG_016338.1:g.64172_64174del , LRG_489:g.64172_64174del
NG_033169.1:g.7753_7755del

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.2958-384_2958-382del (BUB1B) MANE Select ENSP00000287598.7:n.2958-384_2958-382del
ENST00000453867.7:c.-118+2513_-118+2515del (PAK6) ENSP00000401153.3:n.-118+2513_-118+2515del
ENST00000558658.6:c.-201+2513_-201+2515del (PAK6) ENSP00000456785.2:n.-201+2513_-201+2515del
ENST00000287598.10:c.2958-384_2958-382del (BUB1B) ENSP00000287598.6:n.2958-384_2958-382del
ENST00000412359.7:c.3000-384_3000-382del (BUB1B) ENSP00000398470.3:n.3000-384_3000-382del
ENST00000441369.6:c.-201+2513_-201+2515del (BUB1B-PAK6) ENSP00000406873.1:n.-201+2513_-201+2515del
ENST00000453867.6:c.83+2513_83+2515del (BUB1B-PAK6) ENSP00000401153.2:n.83+2513_83+2515del
ENST00000558151.1:n.359-384_359-382del (BUB1B)
ENST00000558658.5:c.81+2513_81+2515del (BUB1B-PAK6) ENSP00000456785.1:n.81+2513_81+2515del
ENST00000559435.1:c.64-384_64-382del (BUB1B-PAK6)
NM_001128628.2:c.-201+2513_-201+2515del (PAK6) NP_001122100.1:n.-201+2513_-201+2515del
NM_001128629.2:c.-118+2513_-118+2515del (PAK6) NP_001122101.1:n.-118+2513_-118+2515del
NM_001211.5:c.2958-384_2958-382del , LRG_489t1:c.2958-384_2958-382del (BUB1B) NP_001202.4:n.2958-384_2958-382del
XR_001751506.1:n.217+19307_217+19309del
NM_001128629.3:c.-118+2513_-118+2515del (BUB1B-PAK6) NP_001122101.1:n.-118+2513_-118+2515del
NM_001211.6:c.2958-384_2958-382del (BUB1B) MANE Select NP_001202.5:n.2958-384_2958-382del
NM_001128628.3:c.-201+2513_-201+2515del (BUB1B-PAK6) NP_001122100.1:n.-201+2513_-201+2515del
Search 100 bp 5'
Search 100 bp 3'