Linked Data
ClinVar Variation Id:
41335
dbSNP Id:
rs312262776
ExAC:
15:44867113 TACAG / T
gnomAD v2:
15-44867113-TACAG-T
gnomAD v3:
15-44574915-TACAG-T
gnomAD v4:
15-44574915-TACAG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44574921_44574924del , CM000677.2:g.44574921_44574924del | GRCh38 |
| NC_000015.9:g.44867119_44867122del , CM000677.1:g.44867119_44867122del | GRCh37 |
| NC_000015.8:g.42654411_42654414del | NCBI36 |
| NG_008885.1:g.93760_93763del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559511.6:c.5867-4261_5867-4258del | ENSP00000453246.2:n.5867-4261_5867-4258del | |
| ENST00000561391.2:n.2217_2220del | ||
| ENST00000682065.1:c.5845_5848del | ENSP00000507025.1:p.Leu1949MetfsTer? | |
| ENST00000682460.1:c.*2246_*2249del | ENSP00000508334.1:n.*2246_*2249del | |
| ENST00000682495.1:c.*2481_*2484del | ENSP00000507166.1:n.*2481_*2484del | |
| ENST00000682669.1:c.5788_5791del | ENSP00000507782.1:p.Leu1930MetfsTer? | |
| ENST00000683186.1:c.*2752_*2755del | ENSP00000507268.1:n.*2752_*2755del | |
| ENST00000683496.1:c.5989_5992del | ENSP00000506968.1:p.Leu1997MetfsTer? | |
| ENST00000683734.1:c.5867-1174_5867-1171del | ENSP00000508319.1:n.5867-1174_5867-1171del | |
| ENST00000683753.1:n.5035_5038del | ||
| ENST00000684038.1:c.*2409_*2412del | ENSP00000507141.1:n.*2409_*2412del | |
| ENST00000684235.1:c.5989_5992del | ENSP00000508295.1:p.Leu1997MetfsTer? | |
| ENST00000684676.1:c.*138_*141del | ENSP00000506948.1:n.*138_*141del | |
| ENST00000261866.12:c.5989_5992del MANE Select | ENSP00000261866.7:p.Leu1997MetfsTer? | |
| ENST00000261866.11:c.5989_5992del | ENSP00000261866.7:p.Leu1997MetfsTer? | |
| ENST00000427534.6:c.5989_5992del | ENSP00000396110.2:p.Leu1997MetfsTer? | |
| ENST00000535302.6:c.5867-2099_5867-2096del | ENSP00000445278.2:n.5867-2099_5867-2096del | |
| ENST00000558080.1:n.354_357del | ||
| ENST00000558319.5:c.5989_5992del | ENSP00000453599.1:p.Leu1997MetfsTer? | |
| ENST00000559511.5:c.715-4261_715-4258del | ||
| ENST00000559822.1:c.532_535del | ||
| NM_001160227.1:c.5867-2099_5867-2096del | NP_001153699.1:n.5867-2099_5867-2096del | |
| NM_025137.3:c.5989_5992del | NP_079413.3:p.Leu1997MetfsTer? | |
| XM_005254695.3:c.5731_5734del | XP_005254752.1:p.Leu1911MetfsTer? | |
| XM_006720700.1:c.5845_5848del | XP_006720763.1:p.Leu1949MetfsTer? | |
| XM_017022634.1:c.5989_5992del | XP_016878123.1:p.Leu1997MetfsTer? | |
| XM_017022636.1:c.2866_2869del | XP_016878125.1:p.Leu956MetfsTer? | |
| NM_025137.4:c.5989_5992del MANE Select | NP_079413.3:p.Leu1997MetfsTer? | |
| NM_001160227.2:c.5867-2099_5867-2096del | NP_001153699.1:n.5867-2099_5867-2096del |