Linked Data
ClinVar Variation Id:
959993
ClinVar RCV Id:
RCV001233439
dbSNP Id:
rs1752666026
gnomAD v4:
5-132390696-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132390697dup , CM000667.2:g.132390697dup | GRCh38 |
| NC_000005.9:g.131726389dup , CM000667.1:g.131726389dup | GRCh37 |
| NC_000005.8:g.131754288dup | NCBI36 |
| NG_008982.1:g.25989dup | |
| NG_008982.2:g.25994dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.901dup | ENSP00000388838.2:p.Ile301AsnfsTer11 | |
| ENST00000435065.7:c.1132dup | ENSP00000402760.2:p.Ile378AsnfsTer11 | |
| ENST00000448810.6:c.1053-79dup | ENSP00000401860.2:n.1053-79dup | |
| ENST00000685543.1:n.1201dup | ||
| ENST00000686757.1:c.*224dup | ENSP00000510721.1:n.*224dup | |
| ENST00000687740.1:n.3745dup | ||
| ENST00000688151.1:n.2370dup | ||
| ENST00000689271.1:c.907dup | ENSP00000510797.1:p.Ile303AsnfsTer11 | |
| ENST00000690900.1:c.*224dup | ENSP00000510703.1:n.*224dup | |
| ENST00000692212.1:n.2672dup | ||
| ENST00000692355.1:c.313dup | ||
| ENST00000692413.1:c.1042dup | ENSP00000509374.1:p.Ile348AsnfsTer11 | |
| ENST00000692825.1:c.1128dup | ENSP00000509447.1:n.1128dup | |
| ENST00000693308.1:c.1108dup | ENSP00000509770.1:p.Ile370AsnfsTer11 | |
| ENST00000693763.1:n.2220dup | ||
| ENST00000245407.8:c.1060dup MANE Select | ENSP00000245407.3:p.Ile354AsnfsTer11 | |
| ENST00000245407.7:c.1060dup | ENSP00000245407.3:p.Ile354AsnfsTer11 | |
| ENST00000435065.6:c.1132dup | ENSP00000402760.2:p.Ile378AsnfsTer11 | |
| ENST00000447841.5:c.111+1676dup | ||
| ENST00000448810.5:c.401-79dup | ||
| ENST00000461013.5:n.8482dup | ||
| ENST00000475308.1:n.1738dup | ||
| ENST00000479605.5:n.163dup | ||
| NM_001308122.1:c.1132dup | NP_001295051.1:p.Ile378AsnfsTer11 | |
| NM_003060.3:c.1060dup | NP_003051.1:p.Ile354AsnfsTer11 | |
| XM_011543590.1:c.442dup | XP_011541892.1:p.Ile148AsnfsTer11 | |
| XR_427718.1:n.1420dup | ||
| XR_948290.1:n.1393+1676dup | ||
| XR_948291.1:n.1414dup | ||
| XM_011543590.2:c.442dup | XP_011541892.1:p.Ile148AsnfsTer11 | |
| XM_017009778.2:c.532dup | XP_016865267.1:p.Ile178AsnfsTer11 | |
| XR_001742215.1:n.1394-79dup | ||
| XR_001742216.1:n.1413-79dup | ||
| XR_427718.2:n.1420dup | ||
| XR_948290.2:n.1393+1676dup | ||
| XR_948291.2:n.1414dup | ||
| NM_003060.4:c.1060dup MANE Select | NP_003051.1:p.Ile354AsnfsTer11 | |
| NM_001308122.2:c.1132dup | NP_001295051.1:p.Ile378AsnfsTer11 |