Linked Data
ClinVar Variation Id:
1970884
ClinVar RCV Id:
RCV002735616
dbSNP Id:
rs771129307
ExAC:
1:17371399 GT / G
gnomAD v2:
1-17371399-GT-G
gnomAD v4:
1-17044904-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044906del , CM000663.2:g.17044906del | GRCh38 |
| NC_000001.10:g.17371401del , CM000663.1:g.17371401del | GRCh37 |
| NC_000001.9:g.17243988del | NCBI36 |
| NG_012340.1:g.14266del , LRG_316:g.14266del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-99-17del | ENSP00000481376.2:n.-99-17del | |
| ENST00000491274.6:c.31-17del | ENSP00000480482.2:n.31-17del | |
| ENST00000375499.8:c.73-17del MANE Select | ENSP00000364649.3:n.73-17del | |
| ENST00000375499.7:c.73-17del | ENSP00000364649.3:n.73-17del | |
| ENST00000463045.2:c.-99-17del | ENSP00000481376.1:n.-99-17del | |
| ENST00000466613.2:n.85-17del | ||
| ENST00000485515.5:n.61-17del | ||
| ENST00000491274.5:c.31-17del | ENSP00000480482.1:n.31-17del | |
| NM_003000.2:c.73-17del , LRG_316t1:c.73-17del | NP_002991.2:n.73-17del | |
| NM_003000.3:c.73-17del MANE Select | NP_002991.2:n.73-17del |