Linked Data
ClinVar Variation Id:
503649
dbSNP Id:
rs781330134
ExAC:
5:131726578 A / AT
gnomAD v2:
5-131726578-A-AT
gnomAD v3:
5-132390886-A-AT
gnomAD v4:
5-132390886-A-AT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390887dup , CM000667.2:g.132390887dup | GRCh38 |
| NC_000005.9:g.131726579dup , CM000667.1:g.131726579dup | GRCh37 |
| NC_000005.8:g.131754478dup | NCBI36 |
| NG_008982.1:g.26179dup | |
| NG_008982.2:g.26184dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.1091dup | ENSP00000388838.2:p.Met364IlefsTer? | |
| ENST00000435065.7:c.1322dup | ENSP00000402760.2:p.Met441IlefsTer? | |
| ENST00000448810.6:c.*102dup | ENSP00000401860.2:n.*102dup | |
| ENST00000685543.1:n.1391dup | ||
| ENST00000686757.1:c.*414dup | ENSP00000510721.1:n.*414dup | |
| ENST00000687740.1:n.3935dup | ||
| ENST00000688151.1:n.2560dup | ||
| ENST00000689271.1:c.1097dup | ENSP00000510797.1:p.Met366IlefsTer? | |
| ENST00000690900.1:c.*414dup | ENSP00000510703.1:n.*414dup | |
| ENST00000692212.1:n.2862dup | ||
| ENST00000692355.1:c.503dup | ||
| ENST00000692413.1:c.1232dup | ENSP00000509374.1:p.Met411IlefsTer? | |
| ENST00000692825.1:c.1318dup | ENSP00000509447.1:n.1318dup | |
| ENST00000693308.1:c.1298dup | ENSP00000509770.1:p.Met433IlefsTer? | |
| ENST00000693763.1:n.2410dup | ||
| ENST00000245407.8:c.1250dup MANE Select | ENSP00000245407.3:p.Met417IlefsTer? | |
| ENST00000245407.7:c.1250dup | ENSP00000245407.3:p.Met417IlefsTer? | |
| ENST00000435065.6:c.1322dup | ENSP00000402760.2:p.Met441IlefsTer? | |
| ENST00000447841.5:c.112-1546dup | ||
| ENST00000448810.5:c.512dup | ||
| ENST00000461013.5:n.8672dup | ||
| ENST00000475308.1:n.1928dup | ||
| ENST00000479605.5:n.353dup | ||
| NM_001308122.1:c.1322dup | NP_001295051.1:p.Met441IlefsTer? | |
| NM_003060.3:c.1250dup | NP_003051.1:p.Met417IlefsTer? | |
| XM_011543590.1:c.632dup | XP_011541892.1:p.Met211IlefsTer? | |
| XR_427718.1:n.1610dup | ||
| XR_948290.1:n.1394-1546dup | ||
| XR_948291.1:n.1604dup | ||
| XM_011543590.2:c.632dup | XP_011541892.1:p.Met211IlefsTer? | |
| XM_017009778.2:c.722dup | XP_016865267.1:p.Met241IlefsTer? | |
| XR_001742215.1:n.1505dup | ||
| XR_001742216.1:n.1524dup | ||
| XR_427718.2:n.1610dup | ||
| XR_948290.2:n.1394-1546dup | ||
| XR_948291.2:n.1604dup | ||
| NM_003060.4:c.1250dup MANE Select | NP_003051.1:p.Met417IlefsTer? | |
| NM_001308122.2:c.1322dup | NP_001295051.1:p.Met441IlefsTer? |