Linked Data
ClinVar Variation Id:
41347
dbSNP Id:
rs312262781
ExAC:
15:44859635 CTCAA / C
gnomAD v2:
15-44859635-CTCAA-C
gnomAD v3:
15-44567437-CTCAA-C
gnomAD v4:
15-44567437-CTCAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44567443_44567446del , CM000677.2:g.44567443_44567446del | GRCh38 |
| NC_000015.9:g.44859641_44859644del , CM000677.1:g.44859641_44859644del | GRCh37 |
| NC_000015.8:g.42646933_42646936del | NCBI36 |
| NG_008885.1:g.101238_101241del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558138.2:c.428_431del | ENSP00000453314.2:p.Ile143SerfsTer15 | |
| ENST00000559511.6:c.6260_6263del | ENSP00000453246.2:p.Ile2087SerfsTer15 | |
| ENST00000682065.1:c.6593_6596del | ENSP00000507025.1:p.Ile2198SerfsTer15 | |
| ENST00000682460.1:c.*2994_*2997del | ENSP00000508334.1:n.*2994_*2997del | |
| ENST00000682495.1:c.*3229_*3232del | ENSP00000507166.1:n.*3229_*3232del | |
| ENST00000682669.1:c.6536_6539del | ENSP00000507782.1:p.Ile2179SerfsTer15 | |
| ENST00000683186.1:c.*3500_*3503del | ENSP00000507268.1:n.*3500_*3503del | |
| ENST00000683496.1:c.*379_*382del | ENSP00000506968.1:n.*379_*382del | |
| ENST00000683734.1:c.*687_*690del | ENSP00000508319.1:n.*687_*690del | |
| ENST00000683753.1:n.5783_5786del | ||
| ENST00000684038.1:c.*3157_*3160del | ENSP00000507141.1:n.*3157_*3160del | |
| ENST00000684235.1:c.6737_6740del | ENSP00000508295.1:p.Ile2246SerfsTer15 | |
| ENST00000261866.12:c.6737_6740del MANE Select | ENSP00000261866.7:p.Ile2246SerfsTer15 | |
| ENST00000261866.11:c.6737_6740del | ENSP00000261866.7:p.Ile2246SerfsTer15 | |
| ENST00000427534.6:c.6737_6740del | ENSP00000396110.2:p.Ile2246SerfsTer7 | |
| ENST00000535302.6:c.6398_6401del | ENSP00000445278.2:p.Ile2133SerfsTer15 | |
| ENST00000558138.1:c.428_431del | ENSP00000453314.1:p.Ile143SerfsTer15 | |
| ENST00000559347.1:n.566_569del | ||
| ENST00000559511.5:c.1108_1111del | ||
| ENST00000561268.5:n.427_430del | ||
| NM_001160227.1:c.6398_6401del | NP_001153699.1:p.Ile2133SerfsTer15 | |
| NM_025137.3:c.6737_6740del | NP_079413.3:p.Ile2246SerfsTer15 | |
| XM_005254695.3:c.6479_6482del | XP_005254752.1:p.Ile2160SerfsTer15 | |
| XM_006720700.1:c.6593_6596del | XP_006720763.1:p.Ile2198SerfsTer15 | |
| XM_017022634.1:c.6629_6632del | XP_016878123.1:p.Ile2210SerfsTer15 | |
| XM_017022636.1:c.3614_3617del | XP_016878125.1:p.Ile1205SerfsTer15 | |
| NM_025137.4:c.6737_6740del MANE Select | NP_079413.3:p.Ile2246SerfsTer15 | |
| NM_001160227.2:c.6398_6401del | NP_001153699.1:p.Ile2133SerfsTer15 |