Linked Data
ClinVar Variation Id:
1909008
ClinVar RCV Id:
RCV002596873
dbSNP Id:
rs764743944
ExAC:
14:45628408 T / TTA
gnomAD v2:
14-45628408-T-TTA
gnomAD v4:
14-45159205-T-TTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45159205_45159206insTA , CM000676.2:g.45159205_45159206insTA | GRCh38 |
| NC_000014.8:g.45628408_45628409insTA , CM000676.1:g.45628408_45628409insTA | GRCh37 |
| NC_000014.7:g.44698158_44698159insTA | NCBI36 |
| NG_007417.1:g.28273_28274insTA , LRG_502:g.28273_28274insTA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000556036.6:c.1506_1507insTA | ENSP00000450596.1:p.Ile503Ter | |
| ENST00000556250.6:c.1506_1507insTA | ENSP00000452033.2:p.Ile503Ter | |
| ENST00000696641.1:c.1347_1348insTA | ENSP00000512774.1:p.Ile450Ter | |
| ENST00000696642.1:c.*317_*318insTA | ENSP00000512775.1:n.*317_*318insTA | |
| ENST00000696643.1:c.1506_1507insTA | ENSP00000512776.1:p.Ile503Ter | |
| ENST00000696646.1:c.*317_*318insTA | ENSP00000512777.1:n.*317_*318insTA | |
| ENST00000696647.1:c.1506_1507insTA | ENSP00000512778.1:p.Ile503Ter | |
| ENST00000696648.1:c.1506_1507insTA | ENSP00000512779.1:p.Ile503Ter | |
| ENST00000696649.1:c.1506_1507insTA | ENSP00000512780.1:p.Ile503Ter | |
| ENST00000696650.1:n.1454_1455insTA | ||
| ENST00000696658.1:n.2056_2057insTA | ||
| ENST00000696662.1:c.1428_1429insTA | ENSP00000512788.1:p.Ile477Ter | |
| ENST00000696663.1:c.323_324insTA | ||
| ENST00000696664.1:c.323_324insTA | ||
| ENST00000696675.1:c.1506_1507insTA | ENSP00000512799.1:p.Ile503Ter | |
| ENST00000696680.1:c.1374_1375insTA | ENSP00000512803.1:p.Ile459Ter | |
| ENST00000696681.1:c.*317_*318insTA | ENSP00000512804.1:n.*317_*318insTA | |
| ENST00000696682.1:c.1506_1507insTA | ENSP00000512805.1:p.Ile503Ter | |
| ENST00000696683.1:c.323_324insTA | ||
| ENST00000696684.1:c.323_324insTA | ||
| ENST00000696685.1:c.323_324insTA | ||
| ENST00000267430.10:c.1506_1507insTA MANE Select | ENSP00000267430.5:p.Ile503Ter | |
| ENST00000267430.9:c.1506_1507insTA | ENSP00000267430.5:p.Ile503Ter | |
| ENST00000542564.6:c.1428_1429insTA | ENSP00000442493.2:p.Ile477Ter | |
| ENST00000556036.5:c.1506_1507insTA | ENSP00000450596.1:p.Ile503Ter | |
| ENST00000556250.5:c.261_262insTA | ENSP00000452033.1:p.Ile88Ter | |
| NM_001308133.1:c.1428_1429insTA | NP_001295062.1:p.Ile477Ter | |
| NM_001308134.1:c.1506_1507insTA | NP_001295063.1:p.Ile503Ter | |
| NM_020937.2:c.1506_1507insTA , LRG_502t1:c.1506_1507insTA | NP_065988.1:p.Ile503Ter | |
| NM_020937.3:c.1506_1507insTA | NP_065988.1:p.Ile503Ter | |
| XM_011537034.1:c.1506_1507insTA | XP_011535336.1:p.Ile503Ter | |
| XM_011537035.1:c.1428_1429insTA | XP_011535337.1:p.Ile477Ter | |
| XM_011537036.1:c.1506_1507insTA | XP_011535338.1:p.Ile503Ter | |
| XM_011537034.2:c.1506_1507insTA | XP_011535336.1:p.Ile503Ter | |
| XM_011537035.3:c.1428_1429insTA | XP_011535337.1:p.Ile477Ter | |
| XM_017021523.1:c.1506_1507insTA | XP_016877012.1:p.Ile503Ter | |
| XM_017021524.2:c.543_544insTA | XP_016877013.1:p.Ile182Ter | |
| XM_017021525.2:c.321_322insTA | XP_016877014.1:p.Ile108Ter | |
| XM_017021526.2:c.321_322insTA | XP_016877015.1:p.Ile108Ter | |
| XM_017021527.1:c.321_322insTA | XP_016877016.1:p.Ile108Ter | |
| XR_001750470.1:n.1598_1599insTA | ||
| XR_001750471.2:n.1598_1599insTA | ||
| XR_001750472.1:n.1598_1599insTA | ||
| NM_020937.4:c.1506_1507insTA MANE Select | NP_065988.1:p.Ile503Ter | |
| NM_001308133.2:c.1428_1429insTA | NP_001295062.1:p.Ile477Ter | |
| NM_001308134.2:c.1506_1507insTA | NP_001295063.1:p.Ile503Ter |