Linked Data
ClinVar Variation Id:
10875
ClinVar RCV Id:
RCV000011622
dbSNP Id:
rs606231186
PubMed:
PMID:1909401
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.19359639_19359640del , CM000685.2:g.19359639_19359640del | GRCh38 |
| NC_000023.10:g.19377757_19377758del , CM000685.1:g.19377757_19377758del | GRCh37 |
| NC_000023.9:g.19287678_19287679del | NCBI36 |
| NG_016781.1:g.20747_20748del | |
| NG_021184.1:g.160622_160623del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355808.10:c.1180_1181del | ENSP00000348062.6:p.Lys394ValfsTer? | |
| ENST00000379805.4:c.*851_*852del | ENSP00000369133.3:n.*851_*852del | |
| ENST00000417819.6:c.1243_1244del | ENSP00000404616.2:p.Lys415ValfsTer? | |
| ENST00000423505.6:c.1273_1274del | ENSP00000406473.2:p.Lys425ValfsTer? | |
| ENST00000481733.2:n.954_955del | ||
| ENST00000696704.1:c.*491_*492del | ENSP00000512823.1:n.*491_*492del | |
| ENST00000696705.1:c.*614_*615del | ENSP00000512824.1:n.*614_*615del | |
| ENST00000422285.7:c.1159_1160del MANE Select | ENSP00000394382.2:p.Lys387ValfsTer? | |
| ENST00000379804.1:c.316_317del | ENSP00000369132.1:p.Lys106ValfsTer? | |
| ENST00000379806.9:c.1273_1274del | ENSP00000369134.5:p.Lys425ValfsTer? | |
| ENST00000422285.6:c.1159_1160del | ENSP00000394382.2:p.Lys387ValfsTer? | |
| ENST00000478795.1:n.598_599del | ||
| ENST00000540249.5:c.1066_1067del | ENSP00000440761.1:p.Lys356ValfsTer? | |
| ENST00000545074.5:c.1180_1181del | ENSP00000438550.1:p.Lys394ValfsTer? | |
| NM_000284.3:c.1159_1160del | NP_000275.1:p.Lys387ValfsTer? | |
| NM_001173454.1:c.1273_1274del | NP_001166925.1:p.Lys425ValfsTer? | |
| NM_001173455.1:c.1180_1181del | NP_001166926.1:p.Lys394ValfsTer? | |
| NM_001173456.1:c.1066_1067del | NP_001166927.1:p.Lys356ValfsTer? | |
| XM_011545531.1:c.1294_1295del | XP_011543833.1:p.Lys432ValfsTer? | |
| XM_011545532.1:c.1201_1202del | XP_011543834.1:p.Lys401ValfsTer? | |
| XM_017029574.2:c.1180_1181del | XP_016885063.1:p.Lys394ValfsTer? | |
| NM_000284.4:c.1159_1160del MANE Select | NP_000275.1:p.Lys387ValfsTer? | |
| NM_001173454.2:c.1273_1274del | NP_001166925.1:p.Lys425ValfsTer? | |
| NM_001173455.2:c.1180_1181del | NP_001166926.1:p.Lys394ValfsTer? | |
| NM_001173456.2:c.1066_1067del | NP_001166927.1:p.Lys356ValfsTer? |