Linked Data
ClinVar Variation Id:
225390
ClinVar RCV Id:
RCV000490349
dbSNP Id:
rs1085307074
PubMed:
PMID:23418020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1584410del , CM000678.2:g.1584410del | GRCh38 |
| NC_000016.9:g.1634411del , CM000678.1:g.1634411del | GRCh37 |
| NC_000016.8:g.1574412del | NCBI36 |
| NG_032783.1:g.32700del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000426508.7:c.1167del MANE Select | ENSP00000406012.2:p.Lys390ArgfsTer6 | |
| ENST00000397417.6:c.340del | ENSP00000380562.2:p.Glu114LysfsTer? | |
| ENST00000426508.6:c.1167del | ENSP00000406012.2:p.Lys390ArgfsTer6 | |
| ENST00000439987.6:n.1228del | ||
| NM_014714.3:c.1167del | NP_055529.2:p.Lys390ArgfsTer6 | |
| XM_005255725.3:c.1167del | XP_005255782.1:p.Lys390ArgfsTer6 | |
| XM_005255726.2:c.1167del | XP_005255783.1:p.Lys390ArgfsTer6 | |
| XM_006720989.2:c.1167del | XP_006721052.1:p.Lys390ArgfsTer6 | |
| XM_006720990.2:c.1167del | XP_006721053.1:p.Lys390ArgfsTer6 | |
| XM_006720991.2:c.1167del | XP_006721054.1:p.Lys390ArgfsTer6 | |
| XM_011522766.1:c.1167del | XP_011521068.1:p.Lys390ArgfsTer6 | |
| XM_011522767.1:c.192del | XP_011521069.1:p.Lys65ArgfsTer6 | |
| XM_011522768.1:c.1167del | XP_011521070.1:p.Lys390ArgfsTer6 | |
| XM_011522769.1:c.1167del | XP_011521071.1:p.Lys390ArgfsTer6 | |
| XM_011522771.1:c.1167del | XP_011521073.1:p.Lys390ArgfsTer6 | |
| XM_011522772.1:c.1167del | XP_011521074.1:p.Lys390ArgfsTer6 | |
| NR_135176.1:n.59+3825del | ||
| XM_005255725.5:c.1167del | XP_005255782.1:p.Lys390ArgfsTer6 | |
| XM_005255726.4:c.1167del | XP_005255783.1:p.Lys390ArgfsTer6 | |
| XM_006720990.3:c.1167del | XP_006721053.1:p.Lys390ArgfsTer6 | |
| XM_006720991.3:c.1167del | XP_006721054.1:p.Lys390ArgfsTer6 | |
| XM_011522766.3:c.1167del | XP_011521068.1:p.Lys390ArgfsTer6 | |
| XM_011522767.2:c.192del | XP_011521069.1:p.Lys65ArgfsTer6 | |
| XM_011522769.3:c.1167del | XP_011521071.1:p.Lys390ArgfsTer6 | |
| XM_011522771.3:c.1167del | XP_011521073.1:p.Lys390ArgfsTer6 | |
| XM_011522772.3:c.1167del | XP_011521074.1:p.Lys390ArgfsTer6 | |
| XM_017023910.1:c.1167del | XP_016879399.1:p.Lys390ArgfsTer6 | |
| XM_017023911.1:c.-531del | XP_016879400.1:n.-531del | |
| NM_014714.4:c.1167del MANE Select | NP_055529.2:p.Lys390ArgfsTer6 |