Linked Data
ClinVar Variation Id:
511239
dbSNP Id:
rs766449694
ExAC:
19:10870407 CT / C
gnomAD v2:
19-10870407-CT-C
gnomAD v3:
19-10759731-CT-C
gnomAD v4:
19-10759731-CT-C
ERepo:
CA9200718/MONDO:0018947/148
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10759732del , CM000681.2:g.10759732del | GRCh38 |
| NC_000019.9:g.10870408del , CM000681.1:g.10870408del | GRCh37 |
| NC_000019.8:g.10731408del | NCBI36 |
| NG_008792.1:g.46654del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682285.1:n.350-6del | ||
| ENST00000682524.1:n.350-6del | ||
| ENST00000683738.1:n.350-6del | ||
| ENST00000355667.11:c.162-6del | ENSP00000347890.6:n.162-6del | |
| ENST00000389253.9:c.162-6del MANE Select | ENSP00000373905.4:n.162-6del | |
| ENST00000355667.10:c.162-6del | ENSP00000347890.6:n.162-6del | |
| ENST00000359692.10:c.162-6del | ENSP00000352721.6:n.162-6del | |
| ENST00000389253.8:c.162-6del | ENSP00000373905.3:n.162-6del | |
| ENST00000408974.8:c.162-6del | ENSP00000386192.3:n.162-6del | |
| ENST00000585892.5:c.162-6del | ENSP00000468734.1:n.162-6del | |
| ENST00000586939.5:c.-313-6del | ENSP00000467430.1:n.-313-6del | |
| ENST00000588976.1:n.467del | ||
| NM_001005360.2:c.162-6del | NP_001005360.1:n.162-6del | |
| NM_001005361.2:c.162-6del | NP_001005361.1:n.162-6del | |
| NM_001005362.2:c.162-6del | NP_001005362.1:n.162-6del | |
| NM_001190716.1:c.162-6del | NP_001177645.1:n.162-6del | |
| NM_004945.3:c.162-6del | NP_004936.2:n.162-6del | |
| NM_001005361.3:c.162-6del MANE Select | NP_001005361.1:n.162-6del | |
| NM_001190716.2:c.162-6del | NP_001177645.1:n.162-6del | |
| NM_001005360.3:c.162-6del | NP_001005360.1:n.162-6del | |
| NM_001005362.3:c.162-6del | NP_001005362.1:n.162-6del | |
| NM_004945.4:c.162-6del | NP_004936.2:n.162-6del |