Linked Data
ClinVar Variation Id:
1295833
ClinVar RCV Id:
RCV001723081
dbSNP Id:
rs145673583
gnomAD v2:
16-3827366-G-GAAAT
gnomAD v3:
16-3777365-G-GAAAT
gnomAD v4:
16-3777365-G-GAAAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3777383_3777386dup , CM000678.2:g.3777383_3777386dup | GRCh38 |
| NC_000016.9:g.3827384_3827387dup , CM000678.1:g.3827384_3827387dup | GRCh37 |
| NC_000016.8:g.3767385_3767388dup | NCBI36 |
| NG_009873.1:g.107752_107755dup | |
| NG_009873.2:g.108345_108348dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.2158+244_2158+247dup MANE Select | ENSP00000262367.5:n.2158+244_2158+247dup | |
| ENST00000262367.9:c.2158+244_2158+247dup | ENSP00000262367.5:n.2158+244_2158+247dup | |
| ENST00000382070.7:c.2044+244_2044+247dup | ENSP00000371502.3:n.2044+244_2044+247dup | |
| ENST00000570939.2:c.763+244_763+247dup | ENSP00000461002.2:n.763+244_763+247dup | |
| ENST00000571826.5:c.207+244_207+247dup | ||
| ENST00000572134.1:c.426+642_426+645dup | ||
| NM_001079846.1:c.2044+244_2044+247dup | NP_001073315.1:n.2044+244_2044+247dup | |
| NM_004380.2:c.2158+244_2158+247dup | NP_004371.2:n.2158+244_2158+247dup | |
| XM_005255124.3:c.2113+642_2113+645dup | XP_005255181.1:n.2113+642_2113+645dup | |
| XM_005255125.3:c.2158+244_2158+247dup | XP_005255182.1:n.2158+244_2158+247dup | |
| XM_006720848.2:c.2158+244_2158+247dup | XP_006720911.1:n.2158+244_2158+247dup | |
| XM_011522380.1:c.2104+244_2104+247dup | XP_011520682.1:n.2104+244_2104+247dup | |
| XM_011522381.1:c.1405+244_1405+247dup | XP_011520683.1:n.1405+244_1405+247dup | |
| XM_011522382.1:c.2158+244_2158+247dup | XP_011520684.1:n.2158+244_2158+247dup | |
| XM_005255124.4:c.2113+642_2113+645dup | XP_005255181.1:n.2113+642_2113+645dup | |
| XM_005255125.4:c.2158+244_2158+247dup | XP_005255182.1:n.2158+244_2158+247dup | |
| XM_006720848.3:c.2158+244_2158+247dup | XP_006720911.1:n.2158+244_2158+247dup | |
| XM_011522381.2:c.1405+244_1405+247dup | XP_011520683.1:n.1405+244_1405+247dup | |
| XM_011522382.3:c.2158+244_2158+247dup | XP_011520684.1:n.2158+244_2158+247dup | |
| XM_017022944.1:c.2158+244_2158+247dup | XP_016878433.1:n.2158+244_2158+247dup | |
| NM_004380.3:c.2158+244_2158+247dup MANE Select | NP_004371.2:n.2158+244_2158+247dup |