Linked Data
ClinVar Variation Id:
158953
ClinVar RCV Id:
RCV000146432
dbSNP Id:
rs34119065
ERepo:
CA271849/MONDO:0010683/149
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.150671575del , CM000685.2:g.150671575del | GRCh38 |
| NC_000023.10:g.149840048del , CM000685.1:g.149840048del | GRCh37 |
| NC_000023.9:g.149590706del | NCBI36 |
| NG_008199.1:g.108002del , LRG_839:g.108002del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684910.1:c.*1325del | ENSP00000509844.1:n.*1325del | |
| ENST00000685439.1:c.1447del | ENSP00000508454.1:p.His483MetfsTer23 | |
| ENST00000685944.1:c.1792del | ENSP00000509266.1:p.His598MetfsTer23 | |
| ENST00000686212.1:n.1394del | ||
| ENST00000687215.1:c.*1547del | ENSP00000509706.1:n.*1547del | |
| ENST00000688152.1:c.*1236del | ENSP00000509360.1:n.*1236del | |
| ENST00000688403.1:c.1048del | ENSP00000508944.1:p.His350MetfsTer23 | |
| ENST00000689314.1:c.1837del | ENSP00000510607.1:p.His613MetfsTer23 | |
| ENST00000689694.1:c.1792del | ENSP00000508718.1:p.His598MetfsTer23 | |
| ENST00000689810.1:c.*1441del | ENSP00000510635.1:n.*1441del | |
| ENST00000690282.1:c.1048del | ENSP00000509809.1:p.His350MetfsTer23 | |
| ENST00000690351.1:c.*1444del | ENSP00000509728.1:n.*1444del | |
| ENST00000691232.1:c.1447del | ENSP00000509675.1:p.His483MetfsTer23 | |
| ENST00000691482.1:n.5755del | ||
| ENST00000691686.1:c.1699del | ENSP00000509784.1:p.His567MetfsTer23 | |
| ENST00000691851.1:c.1201del | ENSP00000510106.1:p.His401MetfsTer23 | |
| ENST00000692015.1:c.1579del | ENSP00000510634.1:p.His527MetfsTer23 | |
| ENST00000692638.1:c.*1590del | ENSP00000509412.1:n.*1590del | |
| ENST00000692852.1:c.1603del | ENSP00000510337.1:p.His535MetfsTer23 | |
| ENST00000692915.1:c.*1938del | ENSP00000508547.1:n.*1938del | |
| ENST00000370396.7:c.1792del MANE Select | ENSP00000359423.3:p.His598MetfsTer23 | |
| ENST00000306167.11:n.1656del | ||
| ENST00000370396.6:c.1792del | ENSP00000359423.2:p.His598MetfsTer23 | |
| NM_000252.2:c.1792del , LRG_839t1:c.1792del | NP_000243.1:p.His598MetfsTer23 | |
| XM_005274687.2:c.1792del | XP_005274744.1:p.His598MetfsTer23 | |
| XM_011531170.1:c.1855del | XP_011529472.1:p.His619MetfsTer23 | |
| XM_011531171.1:c.1837del | XP_011529473.1:p.His613MetfsTer23 | |
| XM_011531172.1:c.1837del | XP_011529474.1:p.His613MetfsTer23 | |
| XM_011531173.1:c.1792del | XP_011529475.1:p.His598MetfsTer23 | |
| XM_011531173.2:c.1792del | XP_011529475.1:p.His598MetfsTer23 | |
| XM_017029547.1:c.1834del | XP_016885036.1:p.His612MetfsTer23 | |
| XM_017029548.1:c.1837del | XP_016885037.1:p.His613MetfsTer23 | |
| XM_017029549.1:c.1789del | XP_016885038.1:p.His597MetfsTer23 | |
| XM_017029550.1:c.1681del | XP_016885039.1:p.His561MetfsTer23 | |
| XM_017029551.2:c.1048del | XP_016885040.1:p.His350MetfsTer23 | |
| NM_000252.3:c.1792del MANE Select | NP_000243.1:p.His598MetfsTer23 | |
| NM_001376906.1:c.1789del | NP_001363835.1:p.His597MetfsTer23 | |
| NM_001376907.1:c.1681del | NP_001363836.1:p.His561MetfsTer23 | |
| NM_001376908.1:c.1792del | NP_001363837.1:p.His598MetfsTer23 |