Linked Data
ClinVar Variation Id:
1413651
ClinVar RCV Id:
RCV001928209
dbSNP Id:
rs778107338
gnomAD v4:
22-40364948-CAAT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.40364949_40364951del , CM000684.2:g.40364949_40364951del | GRCh38 |
| NC_000022.10:g.40760953_40760955del , CM000684.1:g.40760953_40760955del | GRCh37 |
| NC_000022.9:g.39090899_39090901del | NCBI36 |
| NG_007993.1:g.23450_23452del | |
| NG_007993.2:g.23450_23452del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480775.3:c.*655_*657del | ENSP00000485462.2:n.*655_*657del | |
| ENST00000623287.4:c.*686_*688del | ENSP00000485437.1:n.*686_*688del | |
| ENST00000623632.4:c.952_954del | ENSP00000485288.2:p.Asn318del | |
| ENST00000625194.4:c.1303_1305del | ENSP00000485289.2:p.Asn435del | |
| ENST00000636433.1:n.1283_1285del | ||
| ENST00000636714.1:c.1261_1263del | ENSP00000490946.1:p.Asn421del | |
| ENST00000637666.2:c.1191+584_1191+586del | ENSP00000489696.2:n.1191+584_1191+586del | |
| ENST00000637669.1:c.1261_1263del | ENSP00000489728.1:p.Asn421del | |
| ENST00000639722.1:c.*957_*959del | ENSP00000492828.1:n.*957_*959del | |
| ENST00000674592.1:n.2775_2777del | ||
| ENST00000675622.1:n.4328_4330del | ||
| ENST00000679609.1:c.*871_*873del | ENSP00000506592.1:n.*871_*873del | |
| ENST00000679656.1:n.1946_1948del | ||
| ENST00000679723.1:c.1216_1218del | ENSP00000505155.1:p.Asn406del | |
| ENST00000679845.1:n.1569_1571del | ||
| ENST00000679904.1:n.1657_1659del | ||
| ENST00000680378.1:c.1348_1350del | ENSP00000505556.1:p.Asn450del | |
| ENST00000680444.1:c.*624_*626del | ENSP00000505298.1:n.*624_*626del | |
| ENST00000680978.1:c.1261_1263del | ENSP00000505244.1:p.Asn421del | |
| ENST00000681003.1:n.724_726del | ||
| ENST00000681159.1:n.2665_2667del | ||
| ENST00000216194.11:c.1303_1305del | ENSP00000216194.8:p.Asn435del | |
| ENST00000342312.9:c.1191+584_1191+586del | ENSP00000341429.6:n.1191+584_1191+586del | |
| ENST00000623063.3:c.1261_1263del MANE Select | ENSP00000485525.1:p.Asn421del | |
| ENST00000623387.1:n.392_394del | ||
| ENST00000625194.3:c.890_892del | ||
| NM_000026.2:c.1261_1263del | NP_000017.1:p.Asn421del | |
| NM_001123378.1:c.1191+584_1191+586del | NP_001116850.1:n.1191+584_1191+586del | |
| XM_011529976.1:c.1261_1263del | XP_011528278.1:p.Asn421del | |
| XM_011529977.1:c.1261_1263del | XP_011528279.1:p.Asn421del | |
| XM_011529978.1:c.1191+584_1191+586del | XP_011528280.1:n.1191+584_1191+586del | |
| XM_011529979.1:c.1261_1263del | XP_011528281.1:p.Asn421del | |
| XM_011529980.1:c.1191+584_1191+586del | XP_011528282.1:n.1191+584_1191+586del | |
| XM_011529981.1:c.796_798del | XP_011528283.1:p.Asn266del | |
| XM_011529982.1:c.430_432del | XP_011528284.1:p.Asn144del | |
| XR_937824.1:n.1351_1353del | ||
| XR_937825.1:n.1281+584_1281+586del | ||
| NM_000026.3:c.1261_1263del | NP_000017.1:p.Asn421del | |
| NM_001123378.2:c.1191+584_1191+586del | NP_001116850.1:n.1191+584_1191+586del | |
| NM_001317923.1:c.1069_1071del | NP_001304852.1:p.Asn357del | |
| NM_001363840.1:c.1261_1263del | NP_001350769.1:p.Asn421del | |
| NR_134256.1:n.1351_1353del | ||
| XM_011529977.3:c.1261_1263del | XP_011528279.1:p.Asn421del | |
| XM_011529980.3:c.1191+584_1191+586del | XP_011528282.1:n.1191+584_1191+586del | |
| XM_017028636.1:c.1216_1218del | XP_016884125.1:p.Asn406del | |
| XM_017028637.1:c.1216_1218del | XP_016884126.1:p.Asn406del | |
| XM_017028638.1:c.796_798del | XP_016884127.1:p.Asn266del | |
| XM_017028639.2:c.796_798del | XP_016884128.1:p.Asn266del | |
| XM_017028640.1:c.430_432del | XP_016884129.1:p.Asn144del | |
| XM_024452166.1:c.1146+584_1146+586del | XP_024307934.1:n.1146+584_1146+586del | |
| XR_001755176.2:n.1503_1505del | ||
| XR_002958670.1:n.1288_1290del | ||
| XR_937825.3:n.1279+584_1279+586del | ||
| NM_000026.4:c.1261_1263del MANE Select | NP_000017.1:p.Asn421del | |
| NM_001363840.2:c.1261_1263del | NP_001350769.1:p.Asn421del | |
| NM_001123378.3:c.1191+584_1191+586del | NP_001116850.1:n.1191+584_1191+586del | |
| NM_001317923.2:c.1069_1071del | NP_001304852.1:p.Asn357del | |
| NM_001363840.3:c.1261_1263del | NP_001350769.1:p.Asn421del | |
| NR_134256.2:n.1351_1353del |