Linked Data
ClinVar Variation Id:
41354
dbSNP Id:
rs312262786
gnomAD v2:
15-44858151-CAG-C
gnomAD v4:
15-44565953-CAG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44565956_44565957del , CM000677.2:g.44565956_44565957del | GRCh38 |
| NC_000015.9:g.44858154_44858155del , CM000677.1:g.44858154_44858155del | GRCh37 |
| NC_000015.8:g.42645446_42645447del | NCBI36 |
| NG_008885.1:g.102724_102725del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000558138.2:c.589_590del | ENSP00000453314.2:p.Leu197AlafsTer? | |
| ENST00000559511.6:c.6421_6422del | ENSP00000453246.2:p.Leu2141AlafsTer? | |
| ENST00000682065.1:c.6754_6755del | ENSP00000507025.1:p.Leu2252AlafsTer? | |
| ENST00000682460.1:c.*3155_*3156del | ENSP00000508334.1:n.*3155_*3156del | |
| ENST00000682495.1:c.*3390_*3391del | ENSP00000507166.1:n.*3390_*3391del | |
| ENST00000682669.1:c.6697_6698del | ENSP00000507782.1:p.Leu2233AlafsTer? | |
| ENST00000683186.1:c.*3661_*3662del | ENSP00000507268.1:n.*3661_*3662del | |
| ENST00000683496.1:c.*540_*541del | ENSP00000506968.1:n.*540_*541del | |
| ENST00000683734.1:c.*848_*849del | ENSP00000508319.1:n.*848_*849del | |
| ENST00000683753.1:n.5944_5945del | ||
| ENST00000684038.1:c.*3318_*3319del | ENSP00000507141.1:n.*3318_*3319del | |
| ENST00000684235.1:c.6898_6899del | ENSP00000508295.1:p.Leu2300AlafsTer? | |
| ENST00000261866.12:c.6898_6899del MANE Select | ENSP00000261866.7:p.Leu2300AlafsTer? | |
| ENST00000261866.11:c.6898_6899del | ENSP00000261866.7:p.Leu2300AlafsTer? | |
| ENST00000427534.6:c.6754+1469_6754+1470del | ENSP00000396110.2:n.6754+1469_6754+1470de... | |
| ENST00000535302.6:c.6559_6560del | ENSP00000445278.2:p.Leu2187AlafsTer? | |
| ENST00000558138.1:c.589_590del | ENSP00000453314.1:p.Leu197AlafsTer? | |
| ENST00000559511.5:c.1269_1270del | ||
| ENST00000560299.1:n.190_191del | ||
| NM_001160227.1:c.6559_6560del | NP_001153699.1:p.Leu2187AlafsTer? | |
| NM_025137.3:c.6898_6899del | NP_079413.3:p.Leu2300AlafsTer? | |
| XM_005254695.3:c.6640_6641del | XP_005254752.1:p.Leu2214AlafsTer? | |
| XM_006720700.1:c.6754_6755del | XP_006720763.1:p.Leu2252AlafsTer? | |
| XM_017022634.1:c.6790_6791del | XP_016878123.1:p.Leu2264AlafsTer? | |
| XM_017022636.1:c.3775_3776del | XP_016878125.1:p.Leu1259AlafsTer? | |
| NM_025137.4:c.6898_6899del MANE Select | NP_079413.3:p.Leu2300AlafsTer? | |
| NM_001160227.2:c.6559_6560del | NP_001153699.1:p.Leu2187AlafsTer? |