Canonical Allele Identifier: CA2998093910

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.40220709_40220710insAAAAA , CM000677.2:g.40220709_40220710insAAAAA GRCh38
NC_000015.9:g.40512910_40512911insAAAAA , CM000677.1:g.40512910_40512911insAAAAA GRCh37
NC_000015.8:g.38300202_38300203insAAAAA NCBI36
NG_016338.1:g.64701_64702insAAAAA , LRG_489:g.64701_64702insAAAAA
NG_033169.1:g.8282_8283insAAAAA

Transcript Alleles

HGVS Amino-acid Change
ENST00000287598.11:c.3103_3104insAAAAA (BUB1B) MANE Select ENSP00000287598.7:p.Leu1035Ter
ENST00000453867.7:c.-118+3042_-118+3043insAAAAA (PAK6) ENSP00000401153.3:n.-118+3042_-118+3043insAAAAA
ENST00000558658.6:c.-201+3042_-201+3043insAAAAA (PAK6) ENSP00000456785.2:n.-201+3042_-201+3043insAAAAA
ENST00000287598.10:c.3103_3104insAAAAA (BUB1B) ENSP00000287598.6:p.Leu1035Ter
ENST00000412359.7:c.3145_3146insAAAAA (BUB1B) ENSP00000398470.3:p.Leu1049Ter
ENST00000441369.6:c.-201+3042_-201+3043insAAAAA (BUB1B-PAK6) ENSP00000406873.1:n.-201+3042_-201+3043insAAAAA
ENST00000453867.6:c.83+3042_83+3043insAAAAA (BUB1B-PAK6) ENSP00000401153.2:n.83+3042_83+3043insAAAAA
ENST00000558658.5:c.81+3042_81+3043insAAAAA (BUB1B-PAK6) ENSP00000456785.1:n.81+3042_81+3043insAAAAA
ENST00000559435.1:c.209_210insAAAAA (BUB1B-PAK6)
NM_001128628.2:c.-201+3042_-201+3043insAAAAA (PAK6) NP_001122100.1:n.-201+3042_-201+3043insAAAAA
NM_001128629.2:c.-118+3042_-118+3043insAAAAA (PAK6) NP_001122101.1:n.-118+3042_-118+3043insAAAAA
NM_001211.5:c.3103_3104insAAAAA , LRG_489t1:c.3103_3104insAAAAA (BUB1B) NP_001202.4:p.Leu1035Ter
XR_001751506.1:n.217+18775_217+18776insTTTTT
NM_001128629.3:c.-118+3042_-118+3043insAAAAA (BUB1B-PAK6) NP_001122101.1:n.-118+3042_-118+3043insAAAAA
NM_001211.6:c.3103_3104insAAAAA (BUB1B) MANE Select NP_001202.5:p.Leu1035Ter
NM_001128628.3:c.-201+3042_-201+3043insAAAAA (BUB1B-PAK6) NP_001122100.1:n.-201+3042_-201+3043insAAAAA