Linked Data
dbSNP Id:
rs1224629249
gnomAD v2:
17-78346786-GAGA-G
gnomAD v3:
17-80372986-GAGA-G
gnomAD v4:
17-80372986-GAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80372989_80372991del , CM000679.2:g.80372989_80372991del | GRCh38 |
| NC_000017.10:g.78346789_78346791del , CM000679.1:g.78346789_78346791del | GRCh37 |
| NC_000017.9:g.75961384_75961386del | NCBI36 |
| NG_031980.2:g.117129_117131del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000582970.6:c.12766_12768del (RNF213) MANE Select | ENSP00000464087.1:p.Lys4256del | |
| ENST00000411702.7:n.564_566del (RNF213) | ||
| ENST00000508628.6:c.12913_12915del (RNF213) | ENSP00000425956.2:p.Lys4305del | |
| ENST00000558116.5:n.2095_2097del (RNF213) | ||
| ENST00000582970.5:c.12766_12768del (RNF213) | ENSP00000464087.1:p.Lys4256del | |
| NM_001256071.2:c.12766_12768del (RNF213) | NP_001243000.2:p.Lys4256del | |
| NR_029376.1:n.241-17701_241-17699del (RNF213-AS1) | ||
| XM_005257545.3:c.12913_12915del (RNF213) | XP_005257602.2:p.Lys4305del | |
| XM_005257546.3:c.12913_12915del (RNF213) | XP_005257603.2:p.Lys4305del | |
| XM_006721995.2:c.12913_12915del (RNF213) | XP_006722058.1:p.Lys4305del | |
| XM_011525084.1:c.12913_12915del (RNF213) | XP_011523386.1:p.Lys4305del | |
| XM_011525085.1:c.12913_12915del (RNF213) | XP_011523387.1:p.Lys4305del | |
| XR_243676.3:n.13084_13086del (RNF213) | ||
| XM_005257545.4:c.12913_12915del (RNF213) | XP_005257602.2:p.Lys4305del | |
| XM_005257546.4:c.12913_12915del (RNF213) | XP_005257603.2:p.Lys4305del | |
| XM_006721995.3:c.12913_12915del (RNF213) | XP_006722058.1:p.Lys4305del | |
| XM_011525084.2:c.12913_12915del (RNF213) | XP_011523386.1:p.Lys4305del | |
| XM_017024905.2:c.11908_11910del (RNF213) | XP_016880394.1:p.Lys3970del | |
| NM_001256071.3:c.12766_12768del (RNF213) MANE Select | NP_001243000.2:p.Lys4256del |