Linked Data
ClinVar Variation Id:
5806
ClinVar RCV Id:
RCV000006162
dbSNP Id:
rs387906342
gnomAD v4:
9-133443514-GCCAGCTGTGGCGCTGGAAACCTGCAA-G
MyVariant Identifiers:
chr9:g.133443517_133443542del (hg38)
PubMed:
PMID:11586351
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133443517_133443542del , CM000671.2:g.133443517_133443542del | GRCh38 |
| NC_000009.10:g.135298459_135298484del | NCBI36 |
| NG_011934.2:g.34179_34204del , LRG_544:g.34179_34204del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355699.7:c.2376_2401del MANE Select | ENSP00000347927.2:p.Ala793ProfsTer? | |
| ENST00000355699.6:c.2376_2401del | ENSP00000347927.2:p.Ala793ProfsTer? | |
| ENST00000356589.6:c.2283_2308del | ENSP00000348997.2:p.Ala762ProfsTer? | |
| ENST00000371916.5:c.1225-1346_1225-1321del | ENSP00000360984.2:n.1225-1346_1225-1321de... | |
| ENST00000371929.7:c.2376_2401del | ENSP00000360997.3:p.Ala793ProfsTer? | |
| ENST00000474918.1:c.*914_*939del | ENSP00000435305.1:n.*914_*939del | |
| ENST00000485925.5:n.1237-1346_1237-1321del | ||
| ENST00000495234.5:c.*1253-1346_*1253-1321del | ENSP00000435274.1:n.*1253-1346_*1253-1321... | |
| NM_139025.4:c.2376_2401del , LRG_544t1:c.2376_2401del | NP_620594.1:p.Ala793ProfsTer? | |
| NM_139026.4:c.2283_2308del | NP_620595.1:p.Ala762ProfsTer? | |
| NM_139027.4:c.2376_2401del | NP_620596.2:p.Ala793ProfsTer? | |
| NR_024514.2:n.1256-1346_1256-1321del | ||
| XM_011518174.1:c.1986_2011del | XP_011516476.1:p.Ala663ProfsTer? | |
| XM_011518175.1:c.2376_2401del | XP_011516477.1:p.Ala793ProfsTer? | |
| XM_011518176.1:c.1392_1417del | XP_011516478.1:p.Ala465ProfsTer? | |
| XM_011518177.1:c.1386_1411del | XP_011516479.1:p.Ala463ProfsTer? | |
| XM_011518178.1:c.1041_1066del | XP_011516480.1:p.Ala348ProfsTer? | |
| XM_011518179.1:c.1041_1066del | XP_011516481.1:p.Ala348ProfsTer? | |
| XM_011518180.1:c.687-1346_687-1321del | XP_011516482.1:n.687-1346_687-1321del | |
| XM_011518176.3:c.1392_1417del | XP_011516478.1:p.Ala465ProfsTer? | |
| XM_011518178.2:c.1041_1066del | XP_011516480.1:p.Ala348ProfsTer? | |
| XM_017014232.1:c.2364_2389del | XP_016869721.1:p.Ala789ProfsTer? | |
| XM_017014233.1:c.1986_2011del | XP_016869722.1:p.Ala663ProfsTer? | |
| XM_017014234.2:c.1386_1411del | XP_016869723.1:p.Ala463ProfsTer? | |
| XM_017014235.1:c.2234+774_2234+799del | XP_016869724.1:n.2234+774_2234+799del | |
| XR_001746171.1:n.3194-1346_3194-1321del | ||
| NM_139026.5:c.2283_2308del | NP_620595.1:p.Ala762ProfsTer? | |
| NM_139027.5:c.2376_2401del | NP_620596.2:p.Ala793ProfsTer? | |
| NM_139025.5:c.2376_2401del | NP_620594.1:p.Ala793ProfsTer? | |
| NM_139026.6:c.2283_2308del | NP_620595.1:p.Ala762ProfsTer? | |
| NM_139027.6:c.2376_2401del MANE Select | NP_620596.2:p.Ala793ProfsTer? | |
| NR_024514.3:n.1258-1346_1258-1321del |