Canonical Allele Identifier: CA2171676764

Linked Data

dbSNP Id: rs2037877977

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220212_40220213dup , CM000677.2:g.40220212_40220213dup GRCh38
NC_000015.9:g.40512413_40512414dup , CM000677.1:g.40512413_40512414dup GRCh37
NC_000015.8:g.38299705_38299706dup NCBI36
NG_016338.1:g.64204_64205dup , LRG_489:g.64204_64205dup
NG_033169.1:g.7785_7786dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.2958-352_2958-351dup (BUB1B) MANE Select ENSP00000287598.7:n.2958-352_2958-351dup
ENST00000453867.7:c.-118+2545_-118+2546dup (PAK6) ENSP00000401153.3:n.-118+2545_-118+2546dup
ENST00000558658.6:c.-201+2545_-201+2546dup (PAK6) ENSP00000456785.2:n.-201+2545_-201+2546dup
ENST00000287598.10:c.2958-352_2958-351dup (BUB1B) ENSP00000287598.6:n.2958-352_2958-351dup
ENST00000412359.7:c.3000-352_3000-351dup (BUB1B) ENSP00000398470.3:n.3000-352_3000-351dup
ENST00000441369.6:c.-201+2545_-201+2546dup (BUB1B-PAK6) ENSP00000406873.1:n.-201+2545_-201+2546dup
ENST00000453867.6:c.83+2545_83+2546dup (BUB1B-PAK6) ENSP00000401153.2:n.83+2545_83+2546dup
ENST00000558151.1:n.359-352_359-351dup (BUB1B)
ENST00000558658.5:c.81+2545_81+2546dup (BUB1B-PAK6) ENSP00000456785.1:n.81+2545_81+2546dup
ENST00000559435.1:c.64-352_64-351dup (BUB1B-PAK6)
NM_001128628.2:c.-201+2545_-201+2546dup (PAK6) NP_001122100.1:n.-201+2545_-201+2546dup
NM_001128629.2:c.-118+2545_-118+2546dup (PAK6) NP_001122101.1:n.-118+2545_-118+2546dup
NM_001211.5:c.2958-352_2958-351dup , LRG_489t1:c.2958-352_2958-351dup (BUB1B) NP_001202.4:n.2958-352_2958-351dup
XR_001751506.1:n.217+19272_217+19273dup
NM_001128629.3:c.-118+2545_-118+2546dup (BUB1B-PAK6) NP_001122101.1:n.-118+2545_-118+2546dup
NM_001211.6:c.2958-352_2958-351dup (BUB1B) MANE Select NP_001202.5:n.2958-352_2958-351dup
NM_001128628.3:c.-201+2545_-201+2546dup (BUB1B-PAK6) NP_001122100.1:n.-201+2545_-201+2546dup