Linked Data
ClinVar Variation Id:
161524
ClinVar RCV Id:
RCV000149059
dbSNP Id:
rs193920966
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.41468490_41468491del , CM000683.2:g.41468490_41468491del | GRCh38 |
| NC_000021.8:g.42840417_42840418del , CM000683.1:g.42840417_42840418del | GRCh37 |
| NC_000021.7:g.41762287_41762288del | NCBI36 |
| NG_047085.1:g.44671_44672del | |
| NG_047085.2:g.67629_67630del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332149.10:c.1222_1223del (TMPRSS2) MANE Select | ENSP00000330330.5:p.Gln408GlufsTer9 | |
| ENST00000424093.6:c.1102_1103del (TMPRSS2) | ENSP00000397846.2:p.Gln368GlufsTer9 | |
| ENST00000454499.6:c.1222_1223del (TMPRSS2) | ENSP00000389006.2:p.Gln408GlufsTer9 | |
| ENST00000458356.6:c.1222_1223del (TMPRSS2) | ENSP00000391216.1:p.Gln408GlufsTer9 | |
| ENST00000676973.1:c.1222_1223del (TMPRSS2) | ENSP00000504705.1:p.Gln408GlufsTer9 | |
| ENST00000677680.1:c.*639_*640del (TMPRSS2) | ENSP00000504526.1:n.*639_*640del | |
| ENST00000678171.1:c.1222_1223del (TMPRSS2) | ENSP00000503877.1:p.Gln408GlufsTer9 | |
| ENST00000678348.1:c.1222_1223del (TMPRSS2) | ENSP00000503556.1:p.Gln408GlufsTer9 | |
| ENST00000678617.1:n.1461_1462del (TMPRSS2) | ||
| ENST00000678743.1:c.898_899del (TMPRSS2) | ENSP00000503377.1:p.Gln300GlufsTer9 | |
| ENST00000678959.1:c.*954_*955del (TMPRSS2) | ENSP00000503114.1:n.*954_*955del | |
| ENST00000679016.1:c.1015_1016del (TMPRSS2) | ENSP00000504610.1:p.Gln339GlufsTer9 | |
| ENST00000679054.1:c.1222_1223del (TMPRSS2) | ENSP00000502928.1:p.Gln408GlufsTer9 | |
| ENST00000679181.1:c.1172-132_1172-131del (TMPRSS2) | ENSP00000504238.1:n.1172-132_1172-131del | |
| ENST00000679263.1:c.1381_1382del (TMPRSS2) | ENSP00000504602.1:p.Gln461GlufsTer9 | |
| ENST00000679386.1:c.*137_*138del (MX1) | ENSP00000505700.1:n.*137_*138del | |
| ENST00000332149.9:c.1222_1223del (TMPRSS2) | ENSP00000330330.5:p.Gln408GlufsTer9 | |
| ENST00000398585.7:c.1333_1334del (TMPRSS2) | ENSP00000381588.3:p.Gln445GlufsTer9 | |
| ENST00000454499.5:c.1222_1223del (TMPRSS2) | ENSP00000389006.1:p.Gln408GlufsTer9 | |
| ENST00000458356.5:c.1222_1223del (TMPRSS2) | ENSP00000391216.1:p.Gln408GlufsTer9 | |
| ENST00000469395.1:n.350_351del (TMPRSS2) | ||
| NM_001135099.1:c.1333_1334del (TMPRSS2) | NP_001128571.1:p.Gln445GlufsTer9 | |
| NM_005656.3:c.1222_1223del (TMPRSS2) | NP_005647.3:p.Gln408GlufsTer9 | |
| XM_005261043.2:c.1102_1103del (TMPRSS2) | XP_005261100.1:p.Gln368GlufsTer9 | |
| XM_011529731.1:c.1222_1223del (TMPRSS2) | XP_011528033.1:p.Gln408GlufsTer9 | |
| XM_011529732.1:c.1172-132_1172-131del (TMPRSS2) | XP_011528034.1:n.1172-132_1172-131del | |
| XM_011529733.1:c.898_899del (TMPRSS2) | XP_011528035.1:p.Gln300GlufsTer9 | |
| NM_005656.4:c.1222_1223del (TMPRSS2) MANE Select | NP_005647.3:p.Gln408GlufsTer9 | |
| NM_001382720.1:c.1222_1223del (TMPRSS2) | NP_001369649.1:p.Gln408GlufsTer9 |