Linked Data
ClinVar Variation Id:
5425
dbSNP Id:
rs193302865
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65867960_65867963dup , CM000673.2:g.65867960_65867963dup | GRCh38 |
| NC_000011.9:g.65635431_65635434dup , CM000673.1:g.65635431_65635434dup | GRCh37 |
| NC_000011.8:g.65392007_65392010dup | NCBI36 |
| NG_012304.2:g.9974_9977dup | |
| NG_053116.1:g.12899_12902dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307998.11:c.1070_1073dup MANE Select | ENSP00000309953.6:p.Asp359ArgfsTer2 | |
| ENST00000307998.10:c.1070_1073dup | ENSP00000309953.6:p.Asp359ArgfsTer2 | |
| ENST00000525392.1:n.231_234dup | ||
| ENST00000526628.5:n.1636_1639dup | ||
| ENST00000526911.1:c.47_50dup | ENSP00000436536.1:p.Asp18ArgfsTer2 | |
| ENST00000528176.5:c.1070_1073dup | ENSP00000434151.1:p.Asp359ArgfsTer2 | |
| ENST00000528409.1:n.303_306dup | ||
| ENST00000530806.5:c.29_32dup | ENSP00000436526.1:p.Asp12ArgfsTer2 | |
| ENST00000531005.5:n.2064_2067dup | ||
| ENST00000531645.5:c.218_221dup | ENSP00000436521.1:p.Asp75ArgfsTer2 | |
| ENST00000531972.5:c.1070_1073dup | ENSP00000435295.1:p.Asp359ArgfsTer2 | |
| ENST00000532084.5:n.496_499dup | ||
| NM_016938.4:c.1070_1073dup | NP_058634.4:p.Asp359ArgfsTer2 | |
| NR_037718.1:n.1329_1332dup | ||
| NM_016938.5:c.1070_1073dup MANE Select | NP_058634.4:p.Asp359ArgfsTer2 | |
| NR_037718.2:n.1195_1198dup |