Linked Data
ClinVar Variation Id:
55074
ClinVar RCV Id:
RCV000257824
dbSNP Id:
rs397509128
PubMed:
PMID:21318380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43091527_43091530del , CM000679.2:g.43091527_43091530del | GRCh38 |
| NC_000017.10:g.41243544_41243547del , CM000679.1:g.41243544_41243547del | GRCh37 |
| NC_000017.9:g.38497070_38497073del | NCBI36 |
| NG_005905.2:g.126455_126458del , LRG_292:g.126455_126458del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354071.8:n.4066_4069del | ||
| ENST00000461574.2:c.4002_4005del | ENSP00000417241.2:p.Leu1335ValfsTer? | |
| ENST00000470026.6:c.4002_4005del | ENSP00000419274.2:p.Leu1335ValfsTer? | |
| ENST00000473961.6:c.3876_3879del | ENSP00000420201.2:p.Leu1293ValfsTer? | |
| ENST00000476777.6:c.3999_4002del | ENSP00000417554.2:p.Leu1334ValfsTer? | |
| ENST00000477152.6:c.3924_3927del | ENSP00000419988.2:p.Leu1309ValfsTer? | |
| ENST00000478531.6:c.785-497_785-494del | ENSP00000420412.2:n.785-497_785-494del | |
| ENST00000489037.2:c.3924_3927del | ENSP00000420781.2:p.Leu1309ValfsTer? | |
| ENST00000493919.6:c.647-497_647-494del | ENSP00000418819.2:n.647-497_647-494del | |
| ENST00000494123.6:c.4002_4005del | ENSP00000419103.2:p.Leu1335ValfsTer? | |
| ENST00000497488.2:c.3114_3117del | ENSP00000418986.2:p.Leu1039ValfsTer? | |
| ENST00000618469.2:c.4002_4005del | ENSP00000478114.2:p.Leu1335ValfsTer? | |
| ENST00000634433.2:c.3879_3882del | ENSP00000489431.2:p.Leu1294ValfsTer? | |
| ENST00000644379.2:c.4002_4005del | ENSP00000496570.2:p.Leu1335ValfsTer? | |
| ENST00000644555.2:c.647-497_647-494del | ENSP00000494614.2:n.647-497_647-494del | |
| ENST00000652672.2:c.3861_3864del | ENSP00000498906.2:p.Leu1288ValfsTer? | |
| ENST00000484087.6:c.665-497_665-494del | ENSP00000419481.2:n.665-497_665-494del | |
| ENST00000700182.1:c.707-497_707-494del | ENSP00000514849.1:n.707-497_707-494del | |
| ENST00000357654.9:c.4002_4005del MANE Select | ENSP00000350283.3:p.Leu1335ValfsTer? | |
| ENST00000471181.7:c.4002_4005del | ENSP00000418960.2:p.Leu1335ValfsTer? | |
| ENST00000644379.1:c.323_326del | ||
| ENST00000352993.7:c.671-497_671-494del | ENSP00000312236.5:n.671-497_671-494del | |
| ENST00000354071.7:c.4002_4005del | ENSP00000326002.7:p.Leu1335ValfsTer? | |
| ENST00000357654.7:c.4002_4005del | ENSP00000350283.3:p.Leu1335ValfsTer? | |
| ENST00000461221.5:c.*3785_*3788del | ENSP00000418548.1:n.*3785_*3788del | |
| ENST00000461574.1:c.296_299del | ||
| ENST00000468300.5:c.788-497_788-494del | ENSP00000417148.1:n.788-497_788-494del | |
| ENST00000471181.6:c.4002_4005del | ENSP00000418960.2:p.Leu1335ValfsTer? | |
| ENST00000478531.5:c.785-497_785-494del | ENSP00000420412.1:n.785-497_785-494del | |
| ENST00000484087.5:c.410-497_410-494del | ENSP00000419481.1:n.410-497_410-494del | |
| ENST00000487825.5:c.413-497_413-494del | ENSP00000418212.1:n.413-497_413-494del | |
| ENST00000491747.6:c.788-497_788-494del | ENSP00000420705.2:n.788-497_788-494del | |
| ENST00000493795.5:c.3861_3864del | ENSP00000418775.1:p.Leu1288ValfsTer? | |
| ENST00000493919.5:c.647-497_647-494del | ENSP00000418819.1:n.647-497_647-494del | |
| ENST00000586385.5:c.5-27578_5-27575del | ENSP00000465818.1:n.5-27578_5-27575del | |
| ENST00000591534.5:c.-43-17008_-43-17005del | ENSP00000467329.1:n.-43-17008_-43-17005del | |
| ENST00000591849.5:c.-99+33742_-99+33745del | ENSP00000465347.1:n.-99+33742_-99+33745del | |
| NM_007294.3:c.4002_4005del , LRG_292t1:c.4002_4005del | NP_009225.1:p.Leu1335ValfsTer? | |
| NM_007297.3:c.3861_3864del | NP_009228.2:p.Leu1288ValfsTer? | |
| NM_007298.3:c.788-497_788-494del | NP_009229.2:n.788-497_788-494del | |
| NM_007299.3:c.788-497_788-494del | NP_009230.2:n.788-497_788-494del | |
| NM_007300.3:c.4002_4005del | NP_009231.2:p.Leu1335ValfsTer? | |
| NR_027676.1:n.4138_4141del | ||
| NM_007294.4:c.4002_4005del MANE Select | NP_009225.1:p.Leu1335ValfsTer? | |
| NM_007297.4:c.3861_3864del | NP_009228.2:p.Leu1288ValfsTer? | |
| NM_007299.4:c.788-497_788-494del | NP_009230.2:n.788-497_788-494del | |
| NM_007300.4:c.4002_4005del | NP_009231.2:p.Leu1335ValfsTer? | |
| NR_027676.2:n.4179_4182del |