Linked Data
ClinVar Variation Id:
41315
dbSNP Id:
rs312262759
ExAC:
15:44888406 CTT / C
gnomAD v2:
15-44888406-CTT-C
gnomAD v3:
15-44596208-CTT-C
gnomAD v4:
15-44596208-CTT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44596209_44596210del , CM000677.2:g.44596209_44596210del | GRCh38 |
| NC_000015.9:g.44888407_44888408del , CM000677.1:g.44888407_44888408del | GRCh37 |
| NC_000015.8:g.42675699_42675700del | NCBI36 |
| NG_008885.1:g.72469_72470del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.4307_4308del | ENSP00000453246.2:p.Gln1436ArgfsTer7 | |
| ENST00000561391.2:n.535_536del | ||
| ENST00000682065.1:c.4307_4308del | ENSP00000507025.1:p.Gln1436ArgfsTer7 | |
| ENST00000682460.1:c.*727_*728del | ENSP00000508334.1:n.*727_*728del | |
| ENST00000682495.1:c.*799_*800del | ENSP00000507166.1:n.*799_*800del | |
| ENST00000682669.1:c.4106_4107del | ENSP00000507782.1:p.Gln1369ArgfsTer7 | |
| ENST00000682788.1:c.4307_4308del | ENSP00000508089.1:p.Gln1436ArgfsTer7 | |
| ENST00000683121.1:c.4307_4308del | ENSP00000507557.1:p.Gln1436ArgfsTer7 | |
| ENST00000683186.1:c.*1070_*1071del | ENSP00000507268.1:n.*1070_*1071del | |
| ENST00000683496.1:c.4307_4308del | ENSP00000506968.1:p.Gln1436ArgfsTer7 | |
| ENST00000683734.1:c.4307_4308del | ENSP00000508319.1:p.Gln1436ArgfsTer7 | |
| ENST00000683753.1:n.3353_3354del | ||
| ENST00000684038.1:c.*727_*728del | ENSP00000507141.1:n.*727_*728del | |
| ENST00000684235.1:c.4307_4308del | ENSP00000508295.1:p.Gln1436ArgfsTer7 | |
| ENST00000684676.1:c.4307_4308del | ENSP00000506948.1:p.Gln1436ArgfsTer7 | |
| ENST00000261866.12:c.4307_4308del MANE Select | ENSP00000261866.7:p.Gln1436ArgfsTer7 | |
| ENST00000261866.11:c.4307_4308del | ENSP00000261866.7:p.Gln1436ArgfsTer7 | |
| ENST00000427534.6:c.4307_4308del | ENSP00000396110.2:p.Gln1436ArgfsTer7 | |
| ENST00000535302.6:c.4307_4308del | ENSP00000445278.2:p.Gln1436ArgfsTer7 | |
| ENST00000558155.1:c.137_138del | ENSP00000453238.1:p.Gln46ArgfsTer7 | |
| ENST00000558319.5:c.4307_4308del | ENSP00000453599.1:p.Gln1436ArgfsTer7 | |
| ENST00000561391.1:n.535_536del | ||
| NM_001160227.1:c.4307_4308del | NP_001153699.1:p.Gln1436ArgfsTer7 | |
| NM_025137.3:c.4307_4308del | NP_079413.3:p.Gln1436ArgfsTer7 | |
| XM_005254695.3:c.4049_4050del | XP_005254752.1:p.Gln1350ArgfsTer7 | |
| XM_006720700.1:c.4307_4308del | XP_006720763.1:p.Gln1436ArgfsTer7 | |
| XM_006720701.2:c.4307_4308del | XP_006720764.1:p.Gln1436ArgfsTer7 | |
| XR_931917.1:n.4338_4339del | ||
| XM_006720701.3:c.4307_4308del | XP_006720764.1:p.Gln1436ArgfsTer7 | |
| XM_017022634.1:c.4307_4308del | XP_016878123.1:p.Gln1436ArgfsTer7 | |
| XM_017022635.2:c.4307_4308del | XP_016878124.1:p.Gln1436ArgfsTer7 | |
| XM_017022636.1:c.1184_1185del | XP_016878125.1:p.Gln395ArgfsTer7 | |
| XR_931917.2:n.4338_4339del | ||
| NM_025137.4:c.4307_4308del MANE Select | NP_079413.3:p.Gln1436ArgfsTer7 | |
| NM_001160227.2:c.4307_4308del | NP_001153699.1:p.Gln1436ArgfsTer7 |