Linked Data
dbSNP Id:
rs776798421
ExAC:
17:38028738 CA / C
gnomAD v2:
17-38028738-CA-C
gnomAD v4:
17-39872485-CA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39872487del , CM000679.2:g.39872487del | GRCh38 |
| NC_000017.10:g.38028740del , CM000679.1:g.38028740del | GRCh37 |
| NC_000017.9:g.35282266del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348931.9:c.624del MANE Select | ENSP00000335384.5:p.Val209LeufsTer? | |
| ENST00000348931.8:c.624del | ENSP00000335384.5:p.Val209LeufsTer? | |
| ENST00000377940.3:c.558del | ENSP00000367174.3:p.Val187LeufsTer? | |
| ENST00000583811.5:c.270del | ENSP00000462463.1:p.Val91LeufsTer? | |
| ENST00000584588.5:c.407-557del | ENSP00000462067.1:n.407-557del | |
| NM_198844.2:c.558del | NP_942141.2:p.Val187LeufsTer? | |
| NM_199321.2:c.624del | NP_955353.1:p.Val209LeufsTer? | |
| XM_011524298.1:c.624del | XP_011522600.1:p.Val209LeufsTer29 | |
| XR_002957959.1:n.815del | ||
| NM_198844.3:c.558del | NP_942141.2:p.Val187LeufsTer? | |
| NM_199321.3:c.624del MANE Select | NP_955353.1:p.Val209LeufsTer? |