Linked Data
ClinVar Variation Id:
429548
ClinVar RCV Id:
RCV000493728
dbSNP Id:
rs1131691447
gnomAD v3:
17-75524360-TCTC-T
gnomAD v4:
17-75524360-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75524363_75524365del , CM000679.2:g.75524363_75524365del | GRCh38 |
| NC_000017.10:g.73520444_73520446del , CM000679.1:g.73520444_73520446del | GRCh37 |
| NC_000017.9:g.71032039_71032041del | NCBI36 |
| NG_013041.1:g.12836_12838del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333213.11:c.1532_1534del MANE Select | ENSP00000327487.6:p.Ser511del | |
| ENST00000434205.8:c.1229_1231del | ENSP00000406559.4:p.Ser410del | |
| ENST00000545228.3:c.*31_*33del | ENSP00000438169.3:n.*31_*33del | |
| ENST00000577197.2:n.730_732del | ||
| ENST00000579449.2:n.2272_2274del | ||
| ENST00000580013.6:n.2676_2678del | ||
| ENST00000679370.1:n.3054_3056del | ||
| ENST00000679429.1:c.*990_*992del | ENSP00000505403.1:n.*990_*992del | |
| ENST00000679443.1:n.1601_1603del | ||
| ENST00000679782.1:c.*231_*233del | ENSP00000505995.1:n.*231_*233del | |
| ENST00000679919.1:n.1803_1805del | ||
| ENST00000679928.1:c.*2084_*2086del | ENSP00000506071.1:n.*2084_*2086del | |
| ENST00000680528.1:n.2498_2500del | ||
| ENST00000680999.1:c.1745_1747del | ENSP00000504984.1:p.Ser582del | |
| ENST00000681282.1:c.*1719_*1721del | ENSP00000506339.1:n.*1719_*1721del | |
| ENST00000333213.10:c.1532_1534del | ENSP00000327487.6:p.Ser511del | |
| ENST00000545228.2:c.809_811del | ||
| ENST00000577197.1:n.280_282del | ||
| ENST00000579449.1:n.729_731del | ||
| NM_207346.2:c.1532_1534del | NP_997229.2:p.Ser511del | |
| XM_005257229.2:c.*31_*33del | XP_005257286.1:n.*31_*33del | |
| XM_006721821.2:c.*31_*33del | XP_006721884.1:n.*31_*33del | |
| XM_011524616.1:c.*31_*33del | XP_011522918.1:n.*31_*33del | |
| XM_011524618.1:c.1415_1417del | XP_011522920.1:p.Ser472del | |
| XR_243646.2:n.1764_1766del | ||
| XM_005257229.4:c.*31_*33del | XP_005257286.1:n.*31_*33del | |
| XR_001753015.1:n.35_37del | ||
| XR_001753016.1:n.36_38del | ||
| XR_243646.4:n.1770_1772del | ||
| NM_207346.3:c.1532_1534del MANE Select | NP_997229.2:p.Ser511del |