Linked Data
ClinVar Variation Id:
189646
ClinVar RCV Id:
RCV000170129
dbSNP Id:
rs1557134819
PubMed:
PMID:11241840
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030359_154030736del , CM000685.2:g.154030359_154030736del | GRCh38 |
| NC_000023.10:g.153295810_153296187del , CM000685.1:g.153295810_153296187del | GRCh37 |
| NC_000023.9:g.152949004_152949381del | NCBI36 |
| NG_007107.2:g.111397_111774del | |
| NG_007107.3:g.111373_111750del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.1097_*13del MANE Plus Clinical | ENSP00000301948.6:n.[c.1097_*13del;His366... | |
| ENST00000453960.7:c.1133_*13del MANE Select | ENSP00000395535.2:n.[c.1133_*13del;His378... | |
| ENST00000303391.10:c.1097_*13del | ENSP00000301948.6:n.[c.1097_*13del;His366... | |
| ENST00000453960.6:c.1133_*13del | ENSP00000395535.2:n.[c.1133_*13del;His378... | |
| ENST00000619732.4:c.1097_1470del | ||
| ENST00000628176.2:c.*469_*846del | ENSP00000486978.1:n.*469_*846del | |
| NM_001110792.1:c.1133_*13del | NP_001104262.1:n.[c.1133_*13del;His378Arg... | |
| NM_001316337.1:c.818_*13del | NP_001303266.1:n.[c.818_*13del;His273Argf... | |
| NM_004992.3:c.1097_*13del | NP_004983.1:n.[c.1097_*13del;His366ArgfsT... | |
| XM_005274681.3:c.1097_*13del | XP_005274738.1:n.[c.1097_*13del;His366Arg... | |
| XM_005274682.3:c.818_*13del | XP_005274739.1:n.[c.818_*13del;His273Argf... | |
| XM_005274683.3:c.818_*13del | XP_005274740.1:n.[c.818_*13del;His273Argf... | |
| XM_006724819.2:c.428_*13del | XP_006724882.1:n.[c.428_*13del;His143Argf... | |
| XM_011531166.1:c.818_*13del | XP_011529468.1:n.[c.818_*13del;His273Argf... | |
| XM_006724819.3:c.428_*13del | XP_006724882.1:n.[c.428_*13del;His143Argf... | |
| XM_011531166.2:c.818_*13del | XP_011529468.1:n.[c.818_*13del;His273Argf... | |
| XM_024452383.1:c.818_*13del | XP_024308151.1:n.[c.818_*13del;His273Argf... | |
| XM_024452384.1:c.818_*13del | XP_024308152.1:n.[c.818_*13del;His273Argf... | |
| NM_001110792.2:c.1133_*13del MANE Select | NP_001104262.1:n.[c.1133_*13del;His378Arg... | |
| NM_001316337.2:c.818_*13del | NP_001303266.1:n.[c.818_*13del;His273Argf... | |
| NM_001369391.2:c.818_*13del | NP_001356320.1:n.[c.818_*13del;His273Argf... | |
| NM_001369392.2:c.818_*13del | NP_001356321.1:n.[c.818_*13del;His273Argf... | |
| NM_001369393.2:c.818_*13del | NP_001356322.1:n.[c.818_*13del;His273Argf... | |
| NM_001369394.1:c.818_*13del | NP_001356323.1:n.[c.818_*13del;His273Argf... | |
| NM_001369394.2:c.818_*13del | NP_001356323.1:n.[c.818_*13del;His273Argf... | |
| NM_001386137.1:c.428_*13del | NP_001373066.1:n.[c.428_*13del;His143Argf... | |
| NM_001386138.1:c.428_*13del | NP_001373067.1:n.[c.428_*13del;His143Argf... | |
| NM_001386139.1:c.428_*13del | NP_001373068.1:n.[c.428_*13del;His143Argf... | |
| NM_004992.4:c.1097_*13del MANE Plus Clinical | NP_004983.1:n.[c.1097_*13del;His366ArgfsT... |