Linked Data
ClinVar Variation Id:
253045
ClinVar RCV Id:
RCV000239491
dbSNP Id:
rs879255609
PubMed:
PMID:26259131
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4118547del , CM000671.2:g.4118547del | GRCh38 |
| NC_000009.11:g.4118547del , CM000671.1:g.4118547del | GRCh37 |
| NC_000009.10:g.4108547del | NCBI36 |
| NG_011782.1:g.186490del | |
| NG_011782.2:g.186490del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000491889.6:c.*295del | ENSP00000419914.1:n.*295del | |
| ENST00000645252.2:n.152+32394del | ||
| ENST00000682749.1:c.467del | ENSP00000507306.1:p.Gly156AlafsTer4 | |
| ENST00000682846.1:c.131+7188del | ENSP00000507527.1:n.131+7188del | |
| ENST00000381971.8:c.932del MANE Select | ENSP00000371398.3:p.Gly311AlafsTer4 | |
| ENST00000645252.1:n.152+32394del | ||
| ENST00000324333.14:c.467del | ENSP00000325494.10:p.Gly156AlafsTer4 | |
| ENST00000381971.7:c.932del | ENSP00000371398.3:p.Gly311AlafsTer4 | |
| ENST00000490709.1:n.752del | ||
| NM_001042413.1:c.932del | NP_001035878.1:p.Gly311AlafsTer4 | |
| NM_152629.3:c.467del | NP_689842.3:p.Gly156AlafsTer4 | |
| XM_005251386.3:c.467del | XP_005251443.1:p.Gly156AlafsTer4 | |
| XM_005251387.3:c.266del | XP_005251444.1:p.Gly89AlafsTer4 | |
| XM_005251388.3:c.266del | XP_005251445.1:p.Gly89AlafsTer4 | |
| XM_005251389.3:c.932del | XP_005251446.1:p.Gly311AlafsTer4 | |
| XM_006716731.2:c.932del | XP_006716794.1:p.Gly311AlafsTer4 | |
| XM_011517763.1:c.932del | XP_011516065.1:p.Gly311AlafsTer4 | |
| XM_011517764.1:c.932del | XP_011516066.1:p.Gly311AlafsTer4 | |
| XM_011517765.1:c.932del | XP_011516067.1:p.Gly311AlafsTer4 | |
| XM_011517766.1:c.467del | XP_011516068.1:p.Gly156AlafsTer4 | |
| XM_011517767.1:c.266del | XP_011516069.1:p.Gly89AlafsTer4 | |
| XM_011517768.1:c.932del | XP_011516070.1:p.Gly311AlafsTer4 | |
| XM_011517769.1:c.932del | XP_011516071.1:p.Gly311AlafsTer4 | |
| XR_929206.1:n.1698del | ||
| XM_005251386.4:c.467del | XP_005251443.1:p.Gly156AlafsTer4 | |
| XM_005251387.4:c.266del | XP_005251444.1:p.Gly89AlafsTer4 | |
| XM_005251388.4:c.266del | XP_005251445.1:p.Gly89AlafsTer4 | |
| XM_005251389.5:c.932del | XP_005251446.1:p.Gly311AlafsTer4 | |
| XM_006716731.3:c.932del | XP_006716794.1:p.Gly311AlafsTer4 | |
| XM_011517763.2:c.932del | XP_011516065.1:p.Gly311AlafsTer4 | |
| XM_011517764.2:c.932del | XP_011516066.1:p.Gly311AlafsTer4 | |
| XM_011517765.2:c.932del | XP_011516067.1:p.Gly311AlafsTer4 | |
| XM_011517766.2:c.467del | XP_011516068.1:p.Gly156AlafsTer4 | |
| XM_011517767.3:c.266del | XP_011516069.1:p.Gly89AlafsTer4 | |
| XM_011517769.2:c.932del | XP_011516071.1:p.Gly311AlafsTer4 | |
| XM_017014361.1:c.467del | XP_016869850.1:p.Gly156AlafsTer4 | |
| XR_929206.2:n.1694del | ||
| NM_001042413.2:c.932del MANE Select | NP_001035878.1:p.Gly311AlafsTer4 | |
| NM_152629.4:c.467del | NP_689842.3:p.Gly156AlafsTer4 |