Linked Data
ClinVar Variation Id:
1070906
ClinVar RCV Id:
RCV001383233
dbSNP Id:
rs386134209
gnomAD v2:
5-131722730-T-TC
gnomAD v3:
5-132387038-T-TC
gnomAD v4:
5-132387038-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.132387044dup , CM000667.2:g.132387044dup | GRCh38 |
| NC_000005.9:g.131722736dup , CM000667.1:g.131722736dup | GRCh37 |
| NC_000005.8:g.131750635dup | NCBI36 |
| NG_008982.1:g.22336dup | |
| NG_008982.2:g.22341dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415928.6:c.685dup | ENSP00000388838.2:p.Arg229ProfsTer10 | |
| ENST00000435065.7:c.916dup | ENSP00000402760.2:p.Arg306ProfsTer10 | |
| ENST00000448810.6:c.844dup | ENSP00000401860.2:p.Arg282ProfsTer10 | |
| ENST00000686757.1:c.*8dup | ENSP00000510721.1:n.*8dup | |
| ENST00000687740.1:n.3529dup | ||
| ENST00000688151.1:n.2154dup | ||
| ENST00000689271.1:c.691dup | ENSP00000510797.1:p.Arg231ProfsTer10 | |
| ENST00000690900.1:c.*8dup | ENSP00000510703.1:n.*8dup | |
| ENST00000692212.1:n.788dup | ||
| ENST00000692355.1:c.205-1877dup | ||
| ENST00000692413.1:c.844-18dup | ENSP00000509374.1:n.844-18dup | |
| ENST00000692825.1:c.912dup | ENSP00000509447.1:n.912dup | |
| ENST00000693308.1:c.892dup | ENSP00000509770.1:p.Arg298ProfsTer10 | |
| ENST00000693763.1:n.2004dup | ||
| ENST00000245407.8:c.844dup MANE Select | ENSP00000245407.3:p.Arg282ProfsTer10 | |
| ENST00000245407.7:c.844dup | ENSP00000245407.3:p.Arg282ProfsTer10 | |
| ENST00000415928.5:c.613dup | ENSP00000388838.1:p.Arg205ProfsTer10 | |
| ENST00000435065.6:c.916dup | ENSP00000402760.2:p.Arg306ProfsTer10 | |
| ENST00000437841.6:c.*159dup | ENSP00000400553.1:n.*159dup | |
| ENST00000448810.5:c.192dup | ||
| ENST00000461013.5:n.8266dup | ||
| NM_001308122.1:c.916dup | NP_001295051.1:p.Arg306ProfsTer10 | |
| NM_003060.3:c.844dup | NP_003051.1:p.Arg282ProfsTer10 | |
| XM_011543590.1:c.226dup | XP_011541892.1:p.Arg76ProfsTer10 | |
| XR_427718.1:n.1204dup | ||
| XR_948290.1:n.1185dup | ||
| XR_948291.1:n.1198dup | ||
| XM_011543590.2:c.226dup | XP_011541892.1:p.Arg76ProfsTer10 | |
| XM_017009778.2:c.316dup | XP_016865267.1:p.Arg106ProfsTer10 | |
| XR_001742215.1:n.1185dup | ||
| XR_001742216.1:n.1204dup | ||
| XR_427718.2:n.1204dup | ||
| XR_948290.2:n.1185dup | ||
| XR_948291.2:n.1198dup | ||
| NM_003060.4:c.844dup MANE Select | NP_003051.1:p.Arg282ProfsTer10 | |
| NM_001308122.2:c.916dup | NP_001295051.1:p.Arg306ProfsTer10 |