Linked Data
ClinVar Variation Id:
370510
ClinVar RCV Id:
RCV000411138
dbSNP Id:
rs1057516546
ERepo:
CA16041890/MONDO:0009290/010
PubMed:
PMID:17616415
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80108605dup , CM000679.2:g.80108605dup | GRCh38 |
| NC_000017.10:g.78082404dup , CM000679.1:g.78082404dup | GRCh37 |
| NC_000017.9:g.75696999dup | NCBI36 |
| NG_009822.1:g.12050dup , LRG_673:g.12050dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.1192dup | ENSP00000460543.2:p.Leu398ProfsTer? | |
| ENST00000572080.2:c.1192dup | ENSP00000459972.2:p.Leu398ProfsTer? | |
| ENST00000577106.6:c.1192dup | ENSP00000458306.2:p.Leu398ProfsTer? | |
| ENST00000302262.8:c.1192dup MANE Select | ENSP00000305692.3:p.Leu398ProfsTer? | |
| ENST00000302262.7:c.1192dup | ENSP00000305692.3:p.Leu398ProfsTer? | |
| ENST00000390015.7:c.1192dup | ENSP00000374665.3:p.Leu398ProfsTer? | |
| NM_000152.3:c.1192dup , LRG_673t1:c.1192dup | NP_000143.2:p.Leu398ProfsTer? | |
| NM_001079803.1:c.1192dup | NP_001073271.1:p.Leu398ProfsTer? | |
| NM_001079804.1:c.1192dup | NP_001073272.1:p.Leu398ProfsTer? | |
| XM_005257193.1:c.1192dup | XP_005257250.1:p.Leu398ProfsTer? | |
| XM_005257194.3:c.1192dup | XP_005257251.1:p.Leu398ProfsTer? | |
| NM_000152.4:c.1192dup | NP_000143.2:p.Leu398ProfsTer? | |
| NM_001079803.2:c.1192dup | NP_001073271.1:p.Leu398ProfsTer? | |
| NM_001079804.2:c.1192dup | NP_001073272.1:p.Leu398ProfsTer? | |
| XM_005257193.2:c.1192dup | XP_005257250.1:p.Leu398ProfsTer? | |
| XM_005257194.4:c.1192dup | XP_005257251.1:p.Leu398ProfsTer? | |
| NM_000152.5:c.1192dup MANE Select | NP_000143.2:p.Leu398ProfsTer? | |
| NM_001079803.3:c.1192dup | NP_001073271.1:p.Leu398ProfsTer? | |
| NM_001079804.3:c.1192dup | NP_001073272.1:p.Leu398ProfsTer? |