Linked Data
dbSNP Id:
rs1270601508
gnomAD v2:
17-18062579-TC-T
gnomAD v3:
17-18159265-TC-T
gnomAD v4:
17-18159265-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18159270del , CM000679.2:g.18159270del | GRCh38 |
| NC_000017.10:g.18062584del , CM000679.1:g.18062584del | GRCh37 |
| NC_000017.9:g.18003309del | NCBI36 |
| NG_011634.1:g.55565del | |
| NG_011634.2:g.55565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642418.1:n.1495-5del | ||
| ENST00000643693.1:n.959-5del | ||
| ENST00000644795.1:c.949-5del | ENSP00000495720.1:n.949-5del | |
| ENST00000646782.1:n.1891-5del | ||
| ENST00000647165.2:c.9157-5del MANE Select | ENSP00000495481.1:n.9157-5del | |
| ENST00000651214.1:n.1662-5del | ||
| ENST00000205890.9:c.9157-5del | ENSP00000205890.5:n.9157-5del | |
| ENST00000418233.7:c.949-5del | ENSP00000408800.3:n.949-5del | |
| ENST00000433411.7:n.94-5del | ||
| ENST00000445289.6:n.316+1370del | ||
| ENST00000556535.5:c.19-5del | ENSP00000451782.1:n.19-5del | |
| ENST00000557190.5:n.59-5del | ||
| ENST00000557655.5:c.19-5del | ENSP00000451925.1:n.19-5del | |
| ENST00000578472.5:c.19-5del | ENSP00000467989.1:n.19-5del | |
| ENST00000615845.4:c.9157-5del | ENSP00000481642.1:n.9157-5del | |
| NM_016239.3:c.9157-5del | NP_057323.3:n.9157-5del | |
| XM_011523921.1:c.9151-5del | XP_011522223.1:n.9151-5del | |
| XM_017024714.2:c.9097-5del | XP_016880203.1:n.9097-5del | |
| XM_017024715.2:c.9160-5del | XP_016880204.1:n.9160-5del | |
| NM_016239.4:c.9157-5del MANE Select | NP_057323.3:n.9157-5del |