Linked Data
ClinVar Variation Id:
143633
ClinVar RCV Id:
RCV000133173
dbSNP Id:
rs267608506
PubMed:
PMID:16473305
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031219_154031220insT , CM000685.2:g.154031219_154031220insT | GRCh38 |
| NC_000023.10:g.153296670_153296671insT , CM000685.1:g.153296670_153296671insT | GRCh37 |
| NC_000023.9:g.152949864_152949865insT | NCBI36 |
| NG_007107.2:g.110908_110909insA | |
| NG_007107.3:g.110884_110885insA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.608_609insA MANE Plus Clinical | ENSP00000301948.6:p.Ser204ValfsTer? | |
| ENST00000453960.7:c.644_645insA MANE Select | ENSP00000395535.2:p.Ser216ValfsTer? | |
| ENST00000637917.1:c.65+176_65+177insA | ||
| ENST00000303391.10:c.608_609insA | ENSP00000301948.6:p.Ser204ValfsTer? | |
| ENST00000407218.5:c.535_536insA | ENSP00000384865.2:p.Arg179GlnfsTer? | |
| ENST00000453960.6:c.644_645insA | ENSP00000395535.2:p.Ser216ValfsTer? | |
| ENST00000619732.4:c.608_609insA | ENSP00000480973.1:p.Ser204ValfsTer? | |
| ENST00000622433.4:c.596_597insA | ENSP00000484470.1:p.Ser200ValfsTer? | |
| ENST00000628176.2:c.499_500insA | ENSP00000486978.1:p.Arg167GlnfsTer? | |
| NM_001110792.1:c.644_645insA | NP_001104262.1:p.Ser216ValfsTer? | |
| NM_001316337.1:c.329_330insA | NP_001303266.1:p.Ser111ValfsTer? | |
| NM_004992.3:c.608_609insA | NP_004983.1:p.Ser204ValfsTer? | |
| XM_005274681.3:c.608_609insA | XP_005274738.1:p.Ser204ValfsTer? | |
| XM_005274682.3:c.329_330insA | XP_005274739.1:p.Ser111ValfsTer? | |
| XM_005274683.3:c.329_330insA | XP_005274740.1:p.Ser111ValfsTer? | |
| XM_006724819.2:c.-62_-61insA | XP_006724882.1:n.-62_-61insA | |
| XM_011531166.1:c.329_330insA | XP_011529468.1:p.Ser111ValfsTer? | |
| XM_006724819.3:c.-62_-61insA | XP_006724882.1:n.-62_-61insA | |
| XM_011531166.2:c.329_330insA | XP_011529468.1:p.Ser111ValfsTer? | |
| XM_024452383.1:c.329_330insA | XP_024308151.1:p.Ser111ValfsTer? | |
| XM_024452384.1:c.329_330insA | XP_024308152.1:p.Ser111ValfsTer? | |
| NM_001110792.2:c.644_645insA MANE Select | NP_001104262.1:p.Ser216ValfsTer? | |
| NM_001316337.2:c.329_330insA | NP_001303266.1:p.Ser111ValfsTer? | |
| NM_001369391.2:c.329_330insA | NP_001356320.1:p.Ser111ValfsTer? | |
| NM_001369392.2:c.329_330insA | NP_001356321.1:p.Ser111ValfsTer? | |
| NM_001369393.2:c.329_330insA | NP_001356322.1:p.Ser111ValfsTer? | |
| NM_001369394.1:c.329_330insA | NP_001356323.1:p.Ser111ValfsTer? | |
| NM_001369394.2:c.329_330insA | NP_001356323.1:p.Ser111ValfsTer? | |
| NM_001386137.1:c.-62_-61insA | NP_001373066.1:n.-62_-61insA | |
| NM_001386138.1:c.-62_-61insA | NP_001373067.1:n.-62_-61insA | |
| NM_001386139.1:c.-62_-61insA | NP_001373068.1:n.-62_-61insA | |
| NM_004992.4:c.608_609insA MANE Plus Clinical | NP_004983.1:p.Ser204ValfsTer? |