Linked Data
ClinVar Variation Id:
370639
ClinVar RCV Id:
RCV000409225
dbSNP Id:
rs777275355
COSMIC:
COSM1387013
MyVariant Identifiers:
chr17:g.78090819del (hg19)
chr17:g.78090814del (hg19)
chr17:g.80117020del (hg38)
ERepo:
CA16041904/MONDO:0009290/010
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80117020del , CM000679.2:g.80117020del | GRCh38 |
| NC_000017.10:g.78090819del , CM000679.1:g.78090819del | GRCh37 |
| NC_000017.9:g.75705414del | NCBI36 |
| NG_009822.1:g.20465del , LRG_673:g.20465del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000570803.6:c.2242del | ENSP00000460543.2:p.Glu748ArgfsTer16 | |
| ENST00000572080.2:c.*380del | ENSP00000459972.2:n.*380del | |
| ENST00000577106.6:c.2242del | ENSP00000458306.2:p.Glu748ArgfsTer16 | |
| ENST00000302262.8:c.2242del MANE Select | ENSP00000305692.3:p.Glu748ArgfsTer16 | |
| ENST00000302262.7:c.2242del | ENSP00000305692.3:p.Glu748ArgfsTer16 | |
| ENST00000390015.7:c.2242del | ENSP00000374665.3:p.Glu748ArgfsTer16 | |
| ENST00000572080.1:c.661del | ||
| ENST00000573556.1:n.195del | ||
| NM_000152.3:c.2242del , LRG_673t1:c.2242del | NP_000143.2:p.Glu748ArgfsTer16 | |
| NM_001079803.1:c.2242del | NP_001073271.1:p.Glu748ArgfsTer16 | |
| NM_001079804.1:c.2242del | NP_001073272.1:p.Glu748ArgfsTer16 | |
| XM_005257193.1:c.2242del | XP_005257250.1:p.Glu748ArgfsTer16 | |
| XM_005257194.3:c.2242del | XP_005257251.1:p.Glu748ArgfsTer16 | |
| NM_000152.4:c.2242del | NP_000143.2:p.Glu748ArgfsTer16 | |
| NM_001079803.2:c.2242del | NP_001073271.1:p.Glu748ArgfsTer16 | |
| NM_001079804.2:c.2242del | NP_001073272.1:p.Glu748ArgfsTer16 | |
| XM_005257193.2:c.2242del | XP_005257250.1:p.Glu748ArgfsTer16 | |
| XM_005257194.4:c.2242del | XP_005257251.1:p.Glu748ArgfsTer16 | |
| NM_000152.5:c.2242del MANE Select | NP_000143.2:p.Glu748ArgfsTer16 | |
| NM_001079803.3:c.2242del | NP_001073271.1:p.Glu748ArgfsTer16 | |
| NM_001079804.3:c.2242del | NP_001073272.1:p.Glu748ArgfsTer16 |