Linked Data
ClinVar Variation Id:
1599552
ClinVar RCV Id:
RCV002115983
dbSNP Id:
rs2101541662
gnomAD v4:
1-17044894-AT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044900del , CM000663.2:g.17044900del | GRCh38 |
| NC_000001.10:g.17371395del , CM000663.1:g.17371395del | GRCh37 |
| NC_000001.9:g.17243982del | NCBI36 |
| NG_012340.1:g.14276del , LRG_316:g.14276del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-99-7del | ENSP00000481376.2:n.-99-7del | |
| ENST00000491274.6:c.31-7del | ENSP00000480482.2:n.31-7del | |
| ENST00000375499.8:c.73-7del MANE Select | ENSP00000364649.3:n.73-7del | |
| ENST00000375499.7:c.73-7del | ENSP00000364649.3:n.73-7del | |
| ENST00000463045.2:c.-99-7del | ENSP00000481376.1:n.-99-7del | |
| ENST00000466613.2:n.85-7del | ||
| ENST00000485515.5:n.61-7del | ||
| ENST00000491274.5:c.31-7del | ENSP00000480482.1:n.31-7del | |
| NM_003000.2:c.73-7del , LRG_316t1:c.73-7del | NP_002991.2:n.73-7del | |
| NM_003000.3:c.73-7del MANE Select | NP_002991.2:n.73-7del |