Linked Data
ClinVar Variation Id:
204813
dbSNP Id:
rs796052252
ExAC:
22:40761028 CCTT / C
gnomAD v2:
22-40761028-CCTT-C
gnomAD v3:
22-40365024-CCTT-C
gnomAD v4:
22-40365024-CCTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40365031_40365033del , CM000684.2:g.40365031_40365033del | GRCh38 |
| NC_000022.10:g.40761035_40761037del , CM000684.1:g.40761035_40761037del | GRCh37 |
| NC_000022.9:g.39090981_39090983del | NCBI36 |
| NG_007993.1:g.23532_23534del | |
| NG_007993.2:g.23532_23534del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*737_*739del | ENSP00000485462.2:n.*737_*739del | |
| ENST00000623287.4:c.*768_*770del | ENSP00000485437.1:n.*768_*770del | |
| ENST00000623632.4:c.1034_1036del | ENSP00000485288.2:p.Ser345del | |
| ENST00000625194.4:c.1385_1387del | ENSP00000485289.2:p.Ser462del | |
| ENST00000636433.1:n.1365_1367del | ||
| ENST00000636714.1:c.1343_1345del | ENSP00000490946.1:p.Ser448del | |
| ENST00000637666.2:c.1191+666_1191+668del | ENSP00000489696.2:n.1191+666_1191+668del | |
| ENST00000637669.1:c.1343_1345del | ENSP00000489728.1:p.Ser448del | |
| ENST00000639722.1:c.*1039_*1041del | ENSP00000492828.1:n.*1039_*1041del | |
| ENST00000674592.1:n.2857_2859del | ||
| ENST00000675622.1:n.4410_4412del | ||
| ENST00000679609.1:c.*953_*955del | ENSP00000506592.1:n.*953_*955del | |
| ENST00000679656.1:n.2028_2030del | ||
| ENST00000679723.1:c.1298_1300del | ENSP00000505155.1:p.Ser433del | |
| ENST00000679845.1:n.1651_1653del | ||
| ENST00000679904.1:n.1739_1741del | ||
| ENST00000680378.1:c.1430_1432del | ENSP00000505556.1:p.Ser477del | |
| ENST00000680444.1:c.*706_*708del | ENSP00000505298.1:n.*706_*708del | |
| ENST00000680978.1:c.1343_1345del | ENSP00000505244.1:p.Ser448del | |
| ENST00000681003.1:n.806_808del | ||
| ENST00000681159.1:n.2747_2749del | ||
| ENST00000216194.11:c.1385_1387del | ENSP00000216194.8:p.Ser462del | |
| ENST00000342312.9:c.1191+666_1191+668del | ENSP00000341429.6:n.1191+666_1191+668del | |
| ENST00000423176.6:c.70_72del | ||
| ENST00000623063.3:c.1343_1345del MANE Select | ENSP00000485525.1:p.Ser448del | |
| ENST00000623387.1:n.474_476del | ||
| ENST00000623869.3:c.74_76del | ENSP00000485211.1:p.Ser25del | |
| ENST00000624027.1:c.70_72del | ||
| ENST00000625194.3:c.972_974del | ||
| NM_000026.2:c.1343_1345del | NP_000017.1:p.Ser448del | |
| NM_001123378.1:c.1191+666_1191+668del | NP_001116850.1:n.1191+666_1191+668del | |
| XM_011529976.1:c.1343_1345del | XP_011528278.1:p.Ser448del | |
| XM_011529977.1:c.1343_1345del | XP_011528279.1:p.Ser448del | |
| XM_011529978.1:c.1191+666_1191+668del | XP_011528280.1:n.1191+666_1191+668del | |
| XM_011529979.1:c.1343_1345del | XP_011528281.1:p.Ser448del | |
| XM_011529980.1:c.1191+666_1191+668del | XP_011528282.1:n.1191+666_1191+668del | |
| XM_011529981.1:c.878_880del | XP_011528283.1:p.Ser293del | |
| XM_011529982.1:c.512_514del | XP_011528284.1:p.Ser171del | |
| XR_937824.1:n.1433_1435del | ||
| XR_937825.1:n.1281+666_1281+668del | ||
| NM_000026.3:c.1343_1345del | NP_000017.1:p.Ser448del | |
| NM_001123378.2:c.1191+666_1191+668del | NP_001116850.1:n.1191+666_1191+668del | |
| NM_001317923.1:c.1151_1153del | NP_001304852.1:p.Ser384del | |
| NM_001363840.1:c.1343_1345del | NP_001350769.1:p.Ser448del | |
| NR_134256.1:n.1433_1435del | ||
| XM_011529977.3:c.1343_1345del | XP_011528279.1:p.Ser448del | |
| XM_011529980.3:c.1191+666_1191+668del | XP_011528282.1:n.1191+666_1191+668del | |
| XM_017028636.1:c.1298_1300del | XP_016884125.1:p.Ser433del | |
| XM_017028637.1:c.1298_1300del | XP_016884126.1:p.Ser433del | |
| XM_017028638.1:c.878_880del | XP_016884127.1:p.Ser293del | |
| XM_017028639.2:c.878_880del | XP_016884128.1:p.Ser293del | |
| XM_017028640.1:c.512_514del | XP_016884129.1:p.Ser171del | |
| XM_024452166.1:c.1146+666_1146+668del | XP_024307934.1:n.1146+666_1146+668del | |
| XR_001755176.2:n.1585_1587del | ||
| XR_002958670.1:n.1370_1372del | ||
| XR_937825.3:n.1279+666_1279+668del | ||
| NM_000026.4:c.1343_1345del MANE Select | NP_000017.1:p.Ser448del | |
| NM_001363840.2:c.1343_1345del | NP_001350769.1:p.Ser448del | |
| NM_001123378.3:c.1191+666_1191+668del | NP_001116850.1:n.1191+666_1191+668del | |
| NM_001317923.2:c.1151_1153del | NP_001304852.1:p.Ser384del | |
| NM_001363840.3:c.1343_1345del | NP_001350769.1:p.Ser448del | |
| NR_134256.2:n.1433_1435del |