Linked Data
gnomAD v3:
17-80373325-A-ACCCCCACACCTCACCCTCACC
gnomAD v4:
17-80373325-A-ACCCCCACACCTCACCCTCACC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80373345_80373346insCCCCCCACACCTCACCCTCAC , CM000679.2:g.80373345_80373346insCCCCCCACACCTCACCCTCAC | GRCh38 |
| NC_000017.10:g.78347145_78347146insCCCCCCACACCTCACCCTCAC , CM000679.1:g.78347145_78347146insCCCCCCACACCTCACCCTCAC | GRCh37 |
| NC_000017.9:g.75961740_75961741insCCCCCCACACCTCACCCTCAC | NCBI36 |
| NG_031980.2:g.117485_117486insCCCCCCACACCTCACCCTCAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582970.6:c.12942+180_12942+181insCCCCCCACACCTCACCCTCAC (RNF213) MANE Select | ENSP00000464087.1:n.12942+180_12942+181insCCCCCCACACCTCACCCTC... | |
| ENST00000411702.7:n.740+180_740+181insCCCCCCACACCTCACCCTCAC (RNF213) | ||
| ENST00000508628.6:c.13089+180_13089+181insCCCCCCACACCTCACCCTCAC (RNF213) | ENSP00000425956.2:n.13089+180_13089+181insCCCCCCACACCTCACCCTC... | |
| ENST00000558116.5:n.2271+180_2271+181insCCCCCCACACCTCACCCTCAC (RNF213) | ||
| ENST00000573038.1:c.97+180_97+181insCCCCCCACACCTCACCCTCAC (RNF213) | ||
| ENST00000582970.5:c.12942+180_12942+181insCCCCCCACACCTCACCCTCAC (RNF213) | ENSP00000464087.1:n.12942+180_12942+181insCCCCCCACACCTCACCCTC... | |
| NM_001256071.2:c.12942+180_12942+181insCCCCCCACACCTCACCCTCAC (RNF213) | NP_001243000.2:n.12942+180_12942+181insCCCCCCACACCTCACCCTCAC | |
| NR_029376.1:n.241-18038_241-18037insGGTGAGGGTGAGGTGTGGGGG (RNF213-AS1) | ||
| XM_005257545.3:c.13089+180_13089+181insCCCCCCACACCTCACCCTCAC (RNF213) | XP_005257602.2:n.13089+180_13089+181insCCCCCCACACCTCACCCTCAC | |
| XM_005257546.3:c.13089+180_13089+181insCCCCCCACACCTCACCCTCAC (RNF213) | XP_005257603.2:n.13089+180_13089+181insCCCCCCACACCTCACCCTCAC | |
| XM_006721995.2:c.13089+180_13089+181insCCCCCCACACCTCACCCTCAC (RNF213) | XP_006722058.1:n.13089+180_13089+181insCCCCCCACACCTCACCCTCAC | |
| XM_011525084.1:c.13089+180_13089+181insCCCCCCACACCTCACCCTCAC (RNF213) | XP_011523386.1:n.13089+180_13089+181insCCCCCCACACCTCACCCTCAC | |
| XM_011525085.1:c.13089+180_13089+181insCCCCCCACACCTCACCCTCAC (RNF213) | XP_011523387.1:n.13089+180_13089+181insCCCCCCACACCTCACCCTCAC | |
| XR_243676.3:n.13260+180_13260+181insCCCCCCACACCTCACCCTCAC (RNF213) | ||
| XM_005257545.4:c.13089+180_13089+181insCCCCCCACACCTCACCCTCAC (RNF213) | XP_005257602.2:n.13089+180_13089+181insCCCCCCACACCTCACCCTCAC | |
| XM_005257546.4:c.13089+180_13089+181insCCCCCCACACCTCACCCTCAC (RNF213) | XP_005257603.2:n.13089+180_13089+181insCCCCCCACACCTCACCCTCAC | |
| XM_006721995.3:c.13089+180_13089+181insCCCCCCACACCTCACCCTCAC (RNF213) | XP_006722058.1:n.13089+180_13089+181insCCCCCCACACCTCACCCTCAC | |
| XM_011525084.2:c.13089+180_13089+181insCCCCCCACACCTCACCCTCAC (RNF213) | XP_011523386.1:n.13089+180_13089+181insCCCCCCACACCTCACCCTCAC | |
| XM_017024905.2:c.12084+180_12084+181insCCCCCCACACCTCACCCTCAC (RNF213) | XP_016880394.1:n.12084+180_12084+181insCCCCCCACACCTCACCCTCAC | |
| NM_001256071.3:c.12942+180_12942+181insCCCCCCACACCTCACCCTCAC (RNF213) MANE Select | NP_001243000.2:n.12942+180_12942+181insCCCCCCACACCTCACCCTCAC |