Linked Data
ClinVar Variation Id:
2938444
ClinVar RCV Id:
RCV003799218
dbSNP Id:
rs1264558816
gnomAD v4:
9-135770003-T-TGCCCGGCGACCTCCACCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135770004_135770021dup , CM000671.2:g.135770004_135770021dup | GRCh38 |
| NC_000009.11:g.138661850_138661867dup , CM000671.1:g.138661850_138661867dup | GRCh37 |
| NC_000009.10:g.137801671_137801688dup | NCBI36 |
| NG_033070.1:g.72820_72837dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.1568_1585dup MANE Select | ENSP00000360822.2:p.Thr528_Leu529insArgProAlaThrSerThr | |
| ENST00000674572.1:c.1409_1426dup | ENSP00000501742.1:p.Thr475_Leu476insArgProAlaThrSerThr | |
| ENST00000675090.1:c.1316_1333dup | ENSP00000501833.1:p.Thr444_Leu445insArgProAlaThrSerThr | |
| ENST00000675399.1:c.1316_1333dup | ENSP00000501932.1:p.Thr444_Leu445insArgProAlaThrSerThr | |
| ENST00000676421.1:c.1325_1342dup | ENSP00000502322.1:p.Thr447_Leu448insArgProAlaThrSerThr | |
| ENST00000263604.5:c.1469_1486dup | ENSP00000263604.4:p.Thr495_Leu496insArgProAlaThrSerThr | |
| ENST00000371757.6:c.1568_1585dup | ENSP00000360822.2:p.Thr528_Leu529insArgProAlaThrSerThr | |
| ENST00000460750.5:c.*1178_*1195dup | ENSP00000418777.1:n.*1178_*1195dup | |
| ENST00000486577.6:c.1451_1468dup | ENSP00000417578.3:p.Thr489_Leu490insArgProAlaThrSerThr | |
| ENST00000487664.5:c.1568_1585dup | ENSP00000417851.2:p.Thr528_Leu529insArgProAlaThrSerThr | |
| ENST00000488444.6:c.1511_1528dup | ENSP00000419007.3:p.Thr509_Leu510insArgProAlaThrSerThr | |
| ENST00000490355.6:c.1511_1528dup | ENSP00000418003.3:p.Thr509_Leu510insArgProAlaThrSerThr | |
| ENST00000490363.3:n.1387_1404dup | ||
| ENST00000491806.6:c.1511_1528dup | ENSP00000419086.3:p.Thr509_Leu510insArgProAlaThrSerThr | |
| ENST00000628528.2:c.1433_1450dup | ENSP00000486374.1:p.Thr483_Leu484insArgProAlaThrSerThr | |
| ENST00000630792.2:c.1409_1426dup | ENSP00000486486.1:p.Thr475_Leu476insArgProAlaThrSerThr | |
| ENST00000631073.2:c.1511_1528dup | ENSP00000486130.1:p.Thr509_Leu510insArgProAlaThrSerThr | |
| NM_001272003.1:c.1433_1450dup | NP_001258932.1:p.Thr483_Leu484insArgProAlaThrSerThr | |
| NM_020822.2:c.1568_1585dup | NP_065873.2:p.Thr528_Leu529insArgProAlaThrSerThr | |
| XM_011518877.1:c.1703_1720dup | XP_011517179.1:p.Thr573_Leu574insArgProAlaThrSerThr | |
| XM_011518878.1:c.1712_1729dup | XP_011517180.1:p.Thr576_Leu577insArgProAlaThrSerThr | |
| XM_011518879.1:c.1703_1720dup | XP_011517181.1:p.Thr573_Leu574insArgProAlaThrSerThr | |
| XM_011518880.1:c.1469_1486dup | XP_011517182.1:p.Thr495_Leu496insArgProAlaThrSerThr | |
| XM_011518881.1:c.1058_1075dup | XP_011517183.1:p.Thr358_Leu359insArgProAlaThrSerThr | |
| XM_011518877.3:c.1703_1720dup | XP_011517179.1:p.Thr573_Leu574insArgProAlaThrSerThr | |
| XM_011518878.3:c.1712_1729dup | XP_011517180.1:p.Thr576_Leu577insArgProAlaThrSerThr | |
| XM_011518879.3:c.1703_1720dup | XP_011517181.1:p.Thr573_Leu574insArgProAlaThrSerThr | |
| XM_011518881.3:c.1058_1075dup | XP_011517183.1:p.Thr358_Leu359insArgProAlaThrSerThr | |
| XM_017014931.1:c.1502_1519dup | XP_016870420.1:p.Thr506_Leu507insArgProAlaThrSerThr | |
| XM_017014932.1:c.1325_1342dup | XP_016870421.1:p.Thr447_Leu448insArgProAlaThrSerThr | |
| XM_017014933.1:c.1058_1075dup | XP_016870422.1:p.Thr358_Leu359insArgProAlaThrSerThr | |
| XM_024447617.1:c.1058_1075dup | XP_024303385.1:p.Thr358_Leu359insArgProAlaThrSerThr | |
| XM_024447618.1:c.1058_1075dup | XP_024303386.1:p.Thr358_Leu359insArgProAlaThrSerThr | |
| NM_020822.3:c.1568_1585dup MANE Select | NP_065873.2:p.Thr528_Leu529insArgProAlaThrSerThr | |
| NM_001272003.2:c.1433_1450dup | NP_001258932.1:p.Thr483_Leu484insArgProAlaThrSerThr |