Linked Data
ClinVar Variation Id:
958703
ClinVar RCV Id:
RCV001231918
dbSNP Id:
rs778451008
ExAC:
14:45665563 GC / G
gnomAD v2:
14-45665563-GC-G
gnomAD v3:
14-45196360-GC-G
gnomAD v4:
14-45196360-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.45196361del , CM000676.2:g.45196361del | GRCh38 |
| NC_000014.8:g.45665564del , CM000676.1:g.45665564del | GRCh37 |
| NC_000014.7:g.44735314del | NCBI36 |
| NG_007417.1:g.65429del , LRG_502:g.65429del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000554809.6:c.3847del | ENSP00000450632.2:p.Gln1283LysfsTer2 | |
| ENST00000555484.2:c.1308del | ||
| ENST00000556250.6:c.5323del | ENSP00000452033.2:p.Gln1775LysfsTer2 | |
| ENST00000557110.2:c.1308del | ||
| ENST00000696645.1:n.1420del | ||
| ENST00000696647.1:c.5341-2283del | ENSP00000512778.1:n.5341-2283del | |
| ENST00000696648.1:c.*3555del | ENSP00000512779.1:n.*3555del | |
| ENST00000696649.1:c.5374del | ENSP00000512780.1:p.Gln1792LysfsTer2 | |
| ENST00000696651.1:n.1970del | ||
| ENST00000696659.1:c.3339-2283del | ||
| ENST00000696663.1:c.4461del | ||
| ENST00000696664.1:c.4362del | ||
| ENST00000696665.1:c.1308del | ||
| ENST00000696675.1:c.*1286del | ENSP00000512799.1:n.*1286del | |
| ENST00000696683.1:c.4158del | ||
| ENST00000696684.1:c.4158-3509del | ||
| ENST00000696685.1:c.4347del | ||
| ENST00000696686.1:n.2267del | ||
| ENST00000267430.10:c.5530del MANE Select | ENSP00000267430.5:p.Gln1844LysfsTer2 | |
| ENST00000267430.9:c.5530del | ENSP00000267430.5:p.Gln1844LysfsTer2 | |
| ENST00000542564.6:c.5452del | ENSP00000442493.2:p.Gln1818LysfsTer2 | |
| ENST00000554809.5:c.2432del | ||
| ENST00000556250.5:c.4078del | ENSP00000452033.1:p.Gln1360LysfsTer2 | |
| ENST00000557110.1:c.190del | ENSP00000451846.1:p.Gln64LysfsTer2 | |
| NM_001308133.1:c.5452del | NP_001295062.1:p.Gln1818LysfsTer2 | |
| NM_020937.2:c.5530del , LRG_502t1:c.5530del | NP_065988.1:p.Gln1844LysfsTer2 | |
| NM_020937.3:c.5530del | NP_065988.1:p.Gln1844LysfsTer2 | |
| XM_011537034.1:c.5545del | XP_011535336.1:p.Gln1849LysfsTer2 | |
| XM_011537035.1:c.5467del | XP_011535337.1:p.Gln1823LysfsTer2 | |
| XM_011537036.1:c.5356-2283del | XP_011535338.1:n.5356-2283del | |
| XM_011537037.1:c.3559del | XP_011535339.1:p.Gln1187LysfsTer2 | |
| XM_011537034.2:c.5545del | XP_011535336.1:p.Gln1849LysfsTer2 | |
| XM_011537035.3:c.5467del | XP_011535337.1:p.Gln1823LysfsTer2 | |
| XM_011537037.3:c.3559del | XP_011535339.1:p.Gln1187LysfsTer2 | |
| XM_017021523.1:c.5356-3509del | XP_016877012.1:n.5356-3509del | |
| XM_017021524.2:c.4582del | XP_016877013.1:p.Gln1528LysfsTer2 | |
| XM_017021525.2:c.4360del | XP_016877014.1:p.Gln1454LysfsTer2 | |
| XM_017021526.2:c.4360del | XP_016877015.1:p.Gln1454LysfsTer2 | |
| XM_017021527.1:c.4345del | XP_016877016.1:p.Gln1449LysfsTer2 | |
| XR_001750470.1:n.5448-2283del | ||
| XR_001750471.2:n.5433-2283del | ||
| NM_020937.4:c.5530del MANE Select | NP_065988.1:p.Gln1844LysfsTer2 | |
| NM_001308133.2:c.5452del | NP_001295062.1:p.Gln1818LysfsTer2 |