Linked Data
ClinVar Variation Id:
2312554
ClinVar RCV Id:
RCV002887807
dbSNP Id:
rs1400164853
gnomAD v2:
2-55899159-CAT-C
gnomAD v3:
2-55672024-CAT-C
gnomAD v4:
2-55672024-CAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55672026_55672027del , CM000664.2:g.55672026_55672027del | GRCh38 |
| NC_000002.11:g.55899161_55899162del , CM000664.1:g.55899161_55899162del | GRCh37 |
| NC_000002.10:g.55752665_55752666del | NCBI36 |
| NG_033012.1:g.26885_26886del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.887_888del MANE Select | ENSP00000400646.2:p.Tyr296CysfsTer9 | |
| ENST00000260604.8:c.*442_*443del | ENSP00000260604.4:n.*442_*443del | |
| ENST00000415374.5:c.887_888del | ENSP00000393953.1:p.Tyr296CysfsTer9 | |
| ENST00000447944.6:c.887_888del | ENSP00000400646.2:p.Tyr296CysfsTer9 | |
| NM_033109.4:c.887_888del | NP_149100.2:p.Tyr296CysfsTer9 | |
| XM_005264629.1:c.647_648del | XP_005264686.1:p.Tyr216CysfsTer9 | |
| XM_011533142.1:c.887_888del | XP_011531444.1:p.Tyr296CysfsTer9 | |
| XM_005264629.2:c.647_648del | XP_005264686.1:p.Tyr216CysfsTer9 | |
| XM_017005172.1:c.647_648del | XP_016860661.1:p.Tyr216CysfsTer9 | |
| XR_001739010.1:n.917_918del | ||
| NM_033109.5:c.887_888del MANE Select | NP_149100.2:p.Tyr296CysfsTer9 |