Linked Data
ClinVar Variation Id:
2110836
ClinVar RCV Id:
RCV003020343
dbSNP Id:
rs771076575
ExAC:
15:43696597 CCTT / C
gnomAD v2:
15-43696597-CCTT-C
gnomAD v4:
15-43404399-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43404402_43404404del , CM000677.2:g.43404402_43404404del | GRCh38 |
| NC_000015.9:g.43696600_43696602del , CM000677.1:g.43696600_43696602del | GRCh37 |
| NC_000015.8:g.41483892_41483894del | NCBI36 |
| NG_042168.1:g.38344_38346del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382044.9:c.*2981_*2983del (TP53BP1) MANE Select | ENSP00000371475.5:n.*2981_*2983del | |
| ENST00000564079.6:c.1849-11_1849-9del (TUBGCP4) MANE Select | ENSP00000456648.2:n.1849-11_1849-9del | |
| ENST00000260383.11:c.1852-11_1852-9del (TUBGCP4) | ENSP00000260383.7:n.1852-11_1852-9del | |
| ENST00000382044.8:c.*2981_*2983del (TP53BP1) | ENSP00000371475.4:n.*2981_*2983del | |
| ENST00000561691.5:c.1671-11_1671-9del (TUBGCP4) | ||
| ENST00000563147.5:c.364-11_364-9del (TUBGCP4) | ENSP00000454915.1:n.364-11_364-9del | |
| ENST00000563963.1:n.4118-11_4118-9del (TUBGCP4) | ||
| ENST00000564079.5:c.1849-11_1849-9del (TUBGCP4) | ENSP00000456648.1:n.1849-11_1849-9del | |
| ENST00000565548.1:c.163-11_163-9del (TUBGCP4) | ENSP00000456550.1:n.163-11_163-9del | |
| ENST00000566251.1:c.194-11_194-9del (TUBGCP4) | ENSP00000455555.1:n.194-11_194-9del | |
| NM_001286414.1:c.1852-11_1852-9del (TUBGCP4) | NP_001273343.1:n.1852-11_1852-9del | |
| NM_001286414.2:c.1852-11_1852-9del (TUBGCP4) | NP_001273343.1:n.1852-11_1852-9del | |
| NM_014444.3:c.1849-11_1849-9del (TUBGCP4) | NP_055259.2:n.1849-11_1849-9del | |
| NM_014444.4:c.1849-11_1849-9del (TUBGCP4) | NP_055259.2:n.1849-11_1849-9del | |
| XM_005254635.3:c.*2981_*2983del (TP53BP1) | XP_005254692.1:n.*2981_*2983del | |
| XM_011521453.1:c.1801-11_1801-9del (TUBGCP4) | XP_011519755.1:n.1801-11_1801-9del | |
| XM_011521454.1:c.1735-11_1735-9del (TUBGCP4) | XP_011519756.1:n.1735-11_1735-9del | |
| XM_011521455.1:c.1444-11_1444-9del (TUBGCP4) | XP_011519757.1:n.1444-11_1444-9del | |
| XM_011521984.1:c.*2981_*2983del (TP53BP1) | XP_011520286.1:n.*2981_*2983del | |
| XM_011521985.1:c.*2981_*2983del (TP53BP1) | XP_011520287.1:n.*2981_*2983del | |
| XR_243092.2:n.2211-11_2211-9del (TUBGCP4) | ||
| NM_001141979.2:c.*2981_*2983del (TP53BP1) | NP_001135451.1:n.*2981_*2983del | |
| NM_001141980.2:c.*2981_*2983del (TP53BP1) | NP_001135452.1:n.*2981_*2983del | |
| NM_001355001.1:c.*2981_*2983del (TP53BP1) | NP_001341930.1:n.*2981_*2983del | |
| NM_005657.3:c.*2981_*2983del (TP53BP1) | NP_005648.1:n.*2981_*2983del | |
| XM_011521454.3:c.1735-11_1735-9del (TUBGCP4) | XP_011519756.1:n.1735-11_1735-9del | |
| XM_011521455.2:c.1444-11_1444-9del (TUBGCP4) | XP_011519757.1:n.1444-11_1444-9del | |
| XM_011521985.2:c.*2981_*2983del (TP53BP1) | XP_011520287.1:n.*2981_*2983del | |
| XM_017022078.2:c.1732-11_1732-9del (TUBGCP4) | XP_016877567.1:n.1732-11_1732-9del | |
| XR_001751226.2:n.2077-11_2077-9del (TUBGCP4) | ||
| XR_001751382.2:n.9196_9198del (TP53BP1) | ||
| XR_243092.4:n.2194-11_2194-9del (TUBGCP4) | ||
| NM_001141979.3:c.*2981_*2983del (TP53BP1) | NP_001135451.1:n.*2981_*2983del | |
| NM_001141980.3:c.*2981_*2983del (TP53BP1) MANE Select | NP_001135452.1:n.*2981_*2983del | |
| NM_001286414.3:c.1852-11_1852-9del (TUBGCP4) | NP_001273343.1:n.1852-11_1852-9del | |
| NM_001355001.2:c.*2981_*2983del (TP53BP1) | NP_001341930.1:n.*2981_*2983del | |
| NM_005657.4:c.*2981_*2983del (TP53BP1) | NP_005648.1:n.*2981_*2983del | |
| NM_014444.5:c.1849-11_1849-9del (TUBGCP4) MANE Select | NP_055259.2:n.1849-11_1849-9del |