Linked Data
ClinVar Variation Id:
508968
ClinVar RCV Id:
RCV000603423
dbSNP Id:
rs1555015571
gnomAD v4:
11-78469236-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.78469240del , CM000673.2:g.78469240del | GRCh38 |
| NC_000011.9:g.78180286del , CM000673.1:g.78180286del | GRCh37 |
| NC_000011.8:g.77857934del | NCBI36 |
| NG_042046.1:g.110628del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525345.6:n.516+10del | ||
| ENST00000529771.2:c.345+10del | ENSP00000435298.2:n.345+10del | |
| ENST00000695114.1:n.3687+10del | ||
| ENST00000695115.1:c.345+10del | ENSP00000511705.1:n.345+10del | |
| ENST00000695116.1:c.*52+10del | ENSP00000511706.1:n.*52+10del | |
| ENST00000695341.1:c.*691+10del | ENSP00000511816.1:n.*691+10del | |
| ENST00000695342.1:c.345+10del | ENSP00000511817.1:n.345+10del | |
| ENST00000695343.1:c.345+10del | ENSP00000511818.1:n.345+10del | |
| ENST00000695344.1:c.945+10del | ENSP00000511819.1:n.945+10del | |
| ENST00000695345.1:c.345+10del | ENSP00000511820.1:n.345+10del | |
| ENST00000695346.1:c.*443+10del | ENSP00000511821.1:n.*443+10del | |
| ENST00000695347.1:c.*498+10del | ENSP00000511822.1:n.*498+10del | |
| ENST00000695348.1:c.345+10del | ENSP00000511823.1:n.345+10del | |
| ENST00000695349.1:c.1026+10del | ENSP00000511824.1:n.1026+10del | |
| ENST00000695350.1:c.*197+10del | ENSP00000511825.1:n.*197+10del | |
| ENST00000695351.1:c.823-3224del | ENSP00000511826.1:n.823-3224del | |
| ENST00000695352.1:c.174+10del | ENSP00000511827.1:n.174+10del | |
| ENST00000695353.1:c.-105-3224del | ENSP00000511828.1:n.-105-3224del | |
| ENST00000695354.1:c.1026+10del | ENSP00000511829.1:n.1026+10del | |
| ENST00000695355.1:c.1026+10del | ENSP00000511830.1:n.1026+10del | |
| ENST00000695356.1:c.*1002+10del | ENSP00000511831.1:n.*1002+10del | |
| ENST00000695357.1:c.959+9201del | ENSP00000511832.1:n.959+9201del | |
| ENST00000695358.1:c.1026+10del | ENSP00000511833.1:n.1026+10del | |
| ENST00000695359.1:c.*683+10del | ENSP00000511834.1:n.*683+10del | |
| ENST00000695360.1:c.1026+10del | ENSP00000511835.1:n.1026+10del | |
| ENST00000695361.1:c.*155+10del | ENSP00000511836.1:n.*155+10del | |
| ENST00000695362.1:c.*346+10del | ENSP00000511837.1:n.*346+10del | |
| ENST00000695366.1:c.1026+10del | ENSP00000511838.1:n.1026+10del | |
| ENST00000281038.10:c.1026+10del MANE Select | ENSP00000281038.5:n.1026+10del | |
| ENST00000281038.9:c.1026+10del | ENSP00000281038.5:n.1026+10del | |
| ENST00000525345.5:c.516+10del | ||
| ENST00000528850.5:c.345+10del | ENSP00000432635.1:n.345+10del | |
| ENST00000529880.1:c.595-3224del | ENSP00000432240.1:n.595-3224del | |
| NM_001243251.1:c.345+10del | NP_001230180.1:n.345+10del | |
| NM_024678.5:c.1026+10del | NP_078954.4:n.1026+10del | |
| XM_011545253.1:c.1026+10del | XP_011543555.1:n.1026+10del | |
| XR_950050.1:n.1395+10del | ||
| XR_950051.1:n.1357+10del | ||
| XM_011545253.2:c.1026+10del | XP_011543555.1:n.1026+10del | |
| XM_017018303.1:c.345+10del | XP_016873792.1:n.345+10del | |
| XM_017018304.2:c.345+10del | XP_016873793.1:n.345+10del | |
| XR_001747963.2:n.1380+10del | ||
| XR_001747964.2:n.1375+10del | ||
| XR_001747965.2:n.1375+10del | ||
| XR_001747966.2:n.1342+10del | ||
| NM_024678.6:c.1026+10del MANE Select | NP_078954.4:n.1026+10del | |
| NM_001243251.2:c.345+10del | NP_001230180.1:n.345+10del |