Linked Data
ClinVar Variation Id:
1069079
ClinVar RCV Id:
RCV001380824
dbSNP Id:
rs2060637616
gnomAD v4:
16-8804828-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.8804831_8804832del , CM000678.2:g.8804831_8804832del | GRCh38 |
| NC_000016.9:g.8898688_8898689del , CM000678.1:g.8898688_8898689del | GRCh37 |
| NC_000016.8:g.8806189_8806190del | NCBI36 |
| NG_009209.1:g.12019_12020del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682008.1:c.243_244del | ENSP00000507849.1:p.Leu82ValfsTer2 | |
| ENST00000682393.1:c.178+2921_178+2922del | ENSP00000506774.1:n.178+2921_178+2922del | |
| ENST00000683094.1:c.179-1485_179-1484del | ENSP00000508230.1:n.179-1485_179-1484del | |
| ENST00000683274.1:c.243_244del | ENSP00000507262.1:p.Leu82ValfsTer2 | |
| ENST00000683435.1:c.*239_*240del | ENSP00000508092.1:n.*239_*240del | |
| ENST00000268261.9:c.243_244del MANE Select | ENSP00000268261.4:p.Leu82ValfsTer2 | |
| ENST00000268261.8:c.243_244del | ENSP00000268261.4:p.Leu82ValfsTer2 | |
| ENST00000562318.5:c.179-1485_179-1484del | ENSP00000454395.1:n.179-1485_179-1484del | |
| ENST00000562448.1:n.220-1485_220-1484del | ||
| ENST00000564030.5:n.305_306del | ||
| ENST00000564069.1:c.214_215del | ||
| ENST00000565221.5:c.178+2921_178+2922del | ENSP00000457932.1:n.178+2921_178+2922del | |
| ENST00000565896.5:c.*145+2442_*145+2443del | ENSP00000456024.1:n.*145+2442_*145+2443del | |
| ENST00000566540.5:c.179-1485_179-1484del | ENSP00000454284.1:n.179-1485_179-1484del | |
| ENST00000566604.5:c.243_244del | ENSP00000456774.1:p.Leu82ValfsTer2 | |
| ENST00000566983.5:c.162_163del | ENSP00000457956.1:p.Leu55ValfsTer2 | |
| ENST00000568602.5:c.*96_*97del | ENSP00000455066.1:n.*96_*97del | |
| ENST00000569958.5:c.178+2921_178+2922del | ENSP00000456302.1:n.178+2921_178+2922del | |
| ENST00000570076.5:c.178+2921_178+2922del | ENSP00000456961.1:n.178+2921_178+2922del | |
| ENST00000570134.5:c.179-1485_179-1484del | ENSP00000456275.1:n.179-1485_179-1484del | |
| NM_000303.2:c.243_244del | NP_000294.1:p.Leu82ValfsTer2 | |
| XM_005255372.3:c.243_244del | XP_005255429.1:p.Leu82ValfsTer2 | |
| XM_005255373.3:c.7-1485_7-1484del | XP_005255430.1:n.7-1485_7-1484del | |
| XM_005255374.3:c.7-1485_7-1484del | XP_005255431.1:n.7-1485_7-1484del | |
| XM_011522538.1:c.243_244del | XP_011520840.1:p.Leu82ValfsTer2 | |
| XM_011522539.1:c.-29+2921_-29+2922del | XP_011520841.1:n.-29+2921_-29+2922del | |
| XM_005255374.4:c.7-1485_7-1484del | XP_005255431.1:n.7-1485_7-1484del | |
| NM_000303.3:c.243_244del MANE Select | NP_000294.1:p.Leu82ValfsTer2 |