Linked Data
ClinVar Variation Id:
8116
ClinVar RCV Id:
RCV002472355
dbSNP Id:
rs587776685
PubMed:
PMID:15470364
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.101726732del , CM000675.2:g.101726732del | GRCh38 |
| NC_000013.10:g.102379082del , CM000675.1:g.102379082del | GRCh37 |
| NC_000013.9:g.101177083del | NCBI36 |
| NG_008317.1:g.680043del | |
| NG_008317.2:g.680043del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376131.9:c.502del | ENSP00000365301.3:p.Arg168AspfsTer13 | |
| ENST00000418923.3:c.385del | ENSP00000516414.1:p.Arg129AspfsTer13 | |
| ENST00000706491.1:c.*91del | ENSP00000516413.1:n.*91del | |
| ENST00000706492.1:c.*306del | ENSP00000516415.1:n.*306del | |
| ENST00000706493.1:c.*401del | ENSP00000516416.1:n.*401del | |
| ENST00000706494.1:c.235del | ENSP00000516417.1:p.Arg79AspfsTer13 | |
| ENST00000376143.5:c.487del MANE Select | ENSP00000365313.4:p.Arg163AspfsTer13 | |
| ENST00000376131.8:c.502del | ENSP00000365301.3:p.Arg168AspfsTer13 | |
| ENST00000376143.4:c.487del | ENSP00000365313.4:p.Arg163AspfsTer13 | |
| NM_004115.3:c.487del | NP_004106.1:p.Arg163AspfsTer13 | |
| NM_175929.2:c.502del | NP_787125.1:p.Arg168AspfsTer13 | |
| XM_011521053.1:c.307del | XP_011519355.1:p.Arg103AspfsTer13 | |
| NM_001321931.1:c.235del | NP_001308860.1:p.Arg79AspfsTer13 | |
| NM_001321932.1:c.298del | NP_001308861.1:p.Arg100AspfsTer13 | |
| NM_001321933.1:c.307del | NP_001308862.1:p.Arg103AspfsTer13 | |
| NM_001321934.1:c.235del | NP_001308863.1:p.Arg79AspfsTer13 | |
| NM_001321935.1:c.235del | NP_001308864.1:p.Arg79AspfsTer13 | |
| NM_001321936.1:c.298del | NP_001308865.1:p.Arg100AspfsTer13 | |
| NM_001321938.1:c.307del | NP_001308867.1:p.Arg103AspfsTer13 | |
| NM_001321939.1:c.391del | NP_001308868.1:p.Arg131AspfsTer13 | |
| NM_001321940.1:c.307del | NP_001308869.1:p.Arg103AspfsTer13 | |
| NM_001321941.1:c.301del | NP_001308870.1:p.Arg101AspfsTer13 | |
| NM_001321942.1:c.235del | NP_001308871.1:p.Arg79AspfsTer13 | |
| NM_001321943.1:c.235del | NP_001308872.1:p.Arg79AspfsTer13 | |
| NM_001321944.1:c.298del | NP_001308873.1:p.Arg100AspfsTer13 | |
| NM_001321945.1:c.385del | NP_001308874.1:p.Arg129AspfsTer13 | |
| NM_001321946.1:c.235del | NP_001308875.1:p.Arg79AspfsTer13 | |
| NM_001321947.1:c.346del | NP_001308876.1:p.Arg116AspfsTer13 | |
| NM_001321948.1:c.385del | NP_001308877.1:p.Arg129AspfsTer13 | |
| NM_001321949.1:c.235del | NP_001308878.1:p.Arg79AspfsTer13 | |
| NM_001321938.2:c.307del | NP_001308867.1:p.Arg103AspfsTer13 | |
| NM_001321945.2:c.385del | NP_001308874.1:p.Arg129AspfsTer13 | |
| NM_001321946.2:c.235del | NP_001308875.1:p.Arg79AspfsTer13 | |
| NM_001321947.2:c.346del | NP_001308876.1:p.Arg116AspfsTer13 | |
| NM_001321948.2:c.385del | NP_001308877.1:p.Arg129AspfsTer13 | |
| NM_001321939.2:c.391del | NP_001308868.1:p.Arg131AspfsTer13 | |
| NM_001321941.2:c.301del | NP_001308870.1:p.Arg101AspfsTer13 | |
| NM_001379342.1:c.385del | NP_001366271.1:p.Arg129AspfsTer13 | |
| NM_004115.4:c.487del MANE Select | NP_004106.1:p.Arg163AspfsTer13 | |
| NM_175929.3:c.502del | NP_787125.1:p.Arg168AspfsTer13 |