Linked Data
ClinVar Variation Id:
370552
ClinVar RCV Id:
RCV000412465
dbSNP Id:
rs1057516581
ERepo:
CA16041899/MONDO:0009290/010
PubMed:
PMID:19588081
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80113362del , CM000679.2:g.80113362del | GRCh38 |
| NC_000017.10:g.78087161del , CM000679.1:g.78087161del | GRCh37 |
| NC_000017.9:g.75701756del | NCBI36 |
| NG_009822.1:g.16807del , LRG_673:g.16807del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000570803.6:c.2185del | ENSP00000460543.2:p.Leu729TrpfsTer? | |
| ENST00000572080.2:c.*323del | ENSP00000459972.2:n.*323del | |
| ENST00000577106.6:c.2185del | ENSP00000458306.2:p.Leu729TrpfsTer? | |
| ENST00000302262.8:c.2185del MANE Select | ENSP00000305692.3:p.Leu729TrpfsTer? | |
| ENST00000302262.7:c.2185del | ENSP00000305692.3:p.Leu729TrpfsTer? | |
| ENST00000390015.7:c.2185del | ENSP00000374665.3:p.Leu729TrpfsTer? | |
| ENST00000572080.1:c.604del | ||
| NM_000152.3:c.2185del , LRG_673t1:c.2185del | NP_000143.2:p.Leu729TrpfsTer? | |
| NM_001079803.1:c.2185del | NP_001073271.1:p.Leu729TrpfsTer? | |
| NM_001079804.1:c.2185del | NP_001073272.1:p.Leu729TrpfsTer? | |
| XM_005257193.1:c.2185del | XP_005257250.1:p.Leu729TrpfsTer? | |
| XM_005257194.3:c.2185del | XP_005257251.1:p.Leu729TrpfsTer? | |
| NM_000152.4:c.2185del | NP_000143.2:p.Leu729TrpfsTer? | |
| NM_001079803.2:c.2185del | NP_001073271.1:p.Leu729TrpfsTer? | |
| NM_001079804.2:c.2185del | NP_001073272.1:p.Leu729TrpfsTer? | |
| XM_005257193.2:c.2185del | XP_005257250.1:p.Leu729TrpfsTer? | |
| XM_005257194.4:c.2185del | XP_005257251.1:p.Leu729TrpfsTer? | |
| NM_000152.5:c.2185del MANE Select | NP_000143.2:p.Leu729TrpfsTer? | |
| NM_001079803.3:c.2185del | NP_001073271.1:p.Leu729TrpfsTer? | |
| NM_001079804.3:c.2185del | NP_001073272.1:p.Leu729TrpfsTer? |