Linked Data
ClinVar Variation Id:
189663
ClinVar RCV Id:
RCV000170147
dbSNP Id:
rs1557134858
PubMed:
PMID:16473305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030370_154030669del , CM000685.2:g.154030370_154030669del | GRCh38 |
| NC_000023.10:g.153295821_153296120del , CM000685.1:g.153295821_153296120del | GRCh37 |
| NC_000023.9:g.152949015_152949314del | NCBI36 |
| NG_007107.2:g.111459_111758del | |
| NG_007107.3:g.111435_111734del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.1159_1458del MANE Plus Clinical | ENSP00000301948.6:p.Pro387_Ser486del | |
| ENST00000453960.7:c.1195_1494del MANE Select | ENSP00000395535.2:p.Pro399_Ser498del | |
| ENST00000303391.10:c.1159_1458del | ENSP00000301948.6:p.Pro387_Ser486del | |
| ENST00000453960.6:c.1195_1494del | ENSP00000395535.2:p.Pro399_Ser498del | |
| ENST00000619732.4:c.1159_1454del | ||
| ENST00000628176.2:c.*531_*830del | ENSP00000486978.1:n.*531_*830del | |
| NM_001110792.1:c.1195_1494del | NP_001104262.1:p.Pro399_Ser498del | |
| NM_001316337.1:c.880_1179del | NP_001303266.1:p.Pro294_Ser393del | |
| NM_004992.3:c.1159_1458del | NP_004983.1:p.Pro387_Ser486del | |
| XM_005274681.3:c.1159_1458del | XP_005274738.1:p.Pro387_Ser486del | |
| XM_005274682.3:c.880_1179del | XP_005274739.1:p.Pro294_Ser393del | |
| XM_005274683.3:c.880_1179del | XP_005274740.1:p.Pro294_Ser393del | |
| XM_006724819.2:c.490_789del | XP_006724882.1:p.Pro164_Ser263del | |
| XM_011531166.1:c.880_1179del | XP_011529468.1:p.Pro294_Ser393del | |
| XM_006724819.3:c.490_789del | XP_006724882.1:p.Pro164_Ser263del | |
| XM_011531166.2:c.880_1179del | XP_011529468.1:p.Pro294_Ser393del | |
| XM_024452383.1:c.880_1179del | XP_024308151.1:p.Pro294_Ser393del | |
| XM_024452384.1:c.880_1179del | XP_024308152.1:p.Pro294_Ser393del | |
| NM_001110792.2:c.1195_1494del MANE Select | NP_001104262.1:p.Pro399_Ser498del | |
| NM_001316337.2:c.880_1179del | NP_001303266.1:p.Pro294_Ser393del | |
| NM_001369391.2:c.880_1179del | NP_001356320.1:p.Pro294_Ser393del | |
| NM_001369392.2:c.880_1179del | NP_001356321.1:p.Pro294_Ser393del | |
| NM_001369393.2:c.880_1179del | NP_001356322.1:p.Pro294_Ser393del | |
| NM_001369394.1:c.880_1179del | NP_001356323.1:p.Pro294_Ser393del | |
| NM_001369394.2:c.880_1179del | NP_001356323.1:p.Pro294_Ser393del | |
| NM_001386137.1:c.490_789del | NP_001373066.1:p.Pro164_Ser263del | |
| NM_001386138.1:c.490_789del | NP_001373067.1:p.Pro164_Ser263del | |
| NM_001386139.1:c.490_789del | NP_001373068.1:p.Pro164_Ser263del | |
| NM_004992.4:c.1159_1458del MANE Plus Clinical | NP_004983.1:p.Pro387_Ser486del |