ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94298541_94298542delinsTT , CM000672.2:g.94298541_94298542delinsTT | GRCh38 |
| NC_000010.10:g.96058298_96058299delinsTT , CM000672.1:g.96058298_96058299delinsTT | GRCh37 |
| NC_000010.9:g.96048288_96048289delinsTT | NCBI36 |
| NG_015799.1:g.309553_309554delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371375.2:c.4406_4407delinsTT | ENSP00000360426.1:p.Thr1469Ile | |
| ENST00000685253.1:c.*1873_*1874delinsTT | ENSP00000509405.1:n.*1873_*1874delinsTT | |
| ENST00000685889.1:n.2065_2066delinsTT | ||
| ENST00000686807.1:n.749_750delinsTT | ||
| ENST00000686954.1:c.*614_*615delinsTT | ENSP00000508416.1:n.*614_*615delinsTT | |
| ENST00000688810.1:c.4358_4359delinsTT | ENSP00000509140.1:p.Thr1453Ile | |
| ENST00000689233.1:n.9538_9539delinsTT | ||
| ENST00000690340.1:n.3003_3004delinsTT | ||
| ENST00000692286.1:c.5198_5199delinsTT | ENSP00000509490.1:p.Thr1733Ile | |
| ENST00000692396.1:c.5282_5283delinsTT | ENSP00000508605.1:p.Thr1761Ile | |
| ENST00000371380.8:c.5330_5331delinsTT MANE Select | ENSP00000360431.2:p.Thr1777Ile | |
| ENST00000371385.8:c.4304_4305delinsTT | ENSP00000360438.4:p.Thr1435Ile | |
| ENST00000674738.1:c.3885_3886delinsTT | ||
| ENST00000674827.1:c.3446_3447delinsTT | ENSP00000502523.1:p.Thr1149Ile | |
| ENST00000675218.1:c.4406_4407delinsTT | ENSP00000501910.1:p.Thr1469Ile | |
| ENST00000675487.1:c.*1263_*1264delinsTT | ENSP00000502340.1:n.*1263_*1264delinsTT | |
| ENST00000675718.1:c.4599_4600delinsTT | ||
| ENST00000260766.7:c.5330_5331delinsTT | ENSP00000260766.3:p.Thr1777Ile | |
| ENST00000371375.1:c.4406_4407delinsTT | ENSP00000360426.1:p.Thr1469Ile | |
| ENST00000371380.7:c.5330_5331delinsTT | ENSP00000360431.2:p.Thr1777Ile | |
| ENST00000371385.7:c.4406_4407delinsTT | ENSP00000360438.3:p.Thr1469Ile | |
| NM_001165979.2:c.4406_4407delinsTT | NP_001159451.1:p.Thr1469Ile | |
| NM_001288989.1:c.5282_5283delinsTT | NP_001275918.1:p.Thr1761Ile | |
| NM_016341.3:c.5330_5331delinsTT | NP_057425.3:p.Thr1777Ile | |
| XM_006717885.2:c.5372_5373delinsTT | XP_006717948.1:p.Thr1791Ile | |
| XM_006717886.2:c.5372_5373delinsTT | XP_006717949.1:p.Thr1791Ile | |
| XM_006717888.2:c.5369_5370delinsTT | XP_006717951.1:p.Thr1790Ile | |
| XM_006717889.2:c.5324_5325delinsTT | XP_006717952.1:p.Thr1775Ile | |
| XM_006717890.1:c.4448_4449delinsTT | XP_006717953.1:p.Thr1483Ile | |
| XM_011539849.1:c.5372_5373delinsTT | XP_011538151.1:p.Thr1791Ile | |
| XM_011539850.1:c.4217_4218delinsTT | XP_011538152.1:p.Thr1406Ile | |
| XM_006717885.4:c.5372_5373delinsTT | XP_006717948.1:p.Thr1791Ile | |
| XM_006717888.4:c.5369_5370delinsTT | XP_006717951.1:p.Thr1790Ile | |
| XM_006717889.4:c.5324_5325delinsTT | XP_006717952.1:p.Thr1775Ile | |
| XM_006717890.3:c.4448_4449delinsTT | XP_006717953.1:p.Thr1483Ile | |
| XM_011539849.3:c.5372_5373delinsTT | XP_011538151.1:p.Thr1791Ile | |
| XM_011539850.3:c.4217_4218delinsTT | XP_011538152.1:p.Thr1406Ile | |
| XM_017016310.2:c.5372_5373delinsTT | XP_016871799.1:p.Thr1791Ile | |
| XM_017016311.2:c.5372_5373delinsTT | XP_016871800.1:p.Thr1791Ile | |
| XM_017016312.2:c.4358_4359delinsTT | XP_016871801.1:p.Thr1453Ile | |
| NM_001288989.2:c.5282_5283delinsTT | NP_001275918.1:p.Thr1761Ile | |
| NM_016341.4:c.5330_5331delinsTT MANE Select | NP_057425.3:p.Thr1777Ile |