Linked Data
ClinVar Variation Id:
127540
dbSNP Id:
rs587779904
MyVariant Identifiers:
chr9:g.97934415_97934420delinsT (hg19)
chr9:g.95172133_95172138delinsT (hg38)
PubMed:
PMID:26681312
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95172133_95172138delinsT , CM000671.2:g.95172133_95172138delinsT | GRCh38 |
| NC_000009.11:g.97934415_97934420delinsT , CM000671.1:g.97934415_97934420delinsT | GRCh37 |
| NC_000009.10:g.96974236_96974241delinsT | NCBI36 |
| NG_011707.1:g.150572_150577delinsA , LRG_497:g.150572_150577delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696261.1:n.746_751delinsA | ||
| ENST00000289081.8:c.355_360delinsA MANE Select | ENSP00000289081.3:p.Ser119AsnfsTer8 | |
| ENST00000375305.6:c.355_360delinsA | ENSP00000364454.1:p.Ser119AsnfsTer8 | |
| ENST00000490972.7:c.355_360delinsA | ENSP00000479931.1:p.Ser119AsnfsTer8 | |
| ENST00000636777.1:n.413_418delinsA | ||
| ENST00000647778.1:c.355_360delinsA | ENSP00000498125.1:p.Ser119AsnfsTer8 | |
| ENST00000647882.1:c.355_360delinsA | ENSP00000497025.1:p.Ser119AsnfsTer8 | |
| ENST00000649334.1:c.500_505delinsA | ENSP00000497735.1:n.500_505delinsA | |
| ENST00000649701.1:n.70_75delinsA | ||
| ENST00000289081.7:c.355_360delinsA | ENSP00000289081.3:p.Ser119AsnfsTer8 | |
| ENST00000375305.5:c.355_360delinsA | ENSP00000364454.1:p.Ser119AsnfsTer8 | |
| ENST00000433829.1:c.355_360delinsA | ENSP00000406908.1:p.Ser119AsnfsTer8 | |
| ENST00000474949.1:n.712_717delinsA | ||
| ENST00000490972.6:c.355_360delinsA | ENSP00000479931.1:p.Ser119AsnfsTer8 | |
| NM_000136.2:c.355_360delinsA , LRG_497t1:c.355_360delinsA | NP_000127.2:p.Ser119AsnfsTer8 | |
| NM_001243743.1:c.355_360delinsA | NP_001230672.1:p.Ser119AsnfsTer8 | |
| NM_001243744.1:c.355_360delinsA | NP_001230673.1:p.Ser119AsnfsTer8 | |
| XM_006717001.1:c.355_360delinsA | XP_006717064.1:p.Ser119AsnfsTer8 | |
| XM_006717002.2:c.355_360delinsA | XP_006717065.1:p.Ser119AsnfsTer8 | |
| XM_006717004.2:c.355_360delinsA | XP_006717067.1:p.Ser119AsnfsTer8 | |
| XM_011518365.1:c.355_360delinsA | XP_011516667.1:p.Ser119AsnfsTer8 | |
| XM_011518366.1:c.355_360delinsA | XP_011516668.1:p.Ser119AsnfsTer8 | |
| XM_011518367.1:c.-102_-97delinsA | XP_011516669.1:n.-102_-97delinsA | |
| XM_006717001.3:c.355_360delinsA | XP_006717064.1:p.Ser119AsnfsTer8 | |
| XM_006717002.4:c.355_360delinsA | XP_006717065.1:p.Ser119AsnfsTer8 | |
| XM_006717004.4:c.355_360delinsA | XP_006717067.1:p.Ser119AsnfsTer8 | |
| XM_011518365.3:c.355_360delinsA | XP_011516667.1:p.Ser119AsnfsTer8 | |
| XM_011518366.3:c.355_360delinsA | XP_011516668.1:p.Ser119AsnfsTer8 | |
| XM_011518367.2:c.-102_-97delinsA | XP_011516669.1:n.-102_-97delinsA | |
| XM_017014452.2:c.-102_-97delinsA | XP_016869941.1:n.-102_-97delinsA | |
| XM_017014453.1:c.-102_-97delinsA | XP_016869942.1:n.-102_-97delinsA | |
| XM_017014454.1:c.-102_-97delinsA | XP_016869943.1:n.-102_-97delinsA | |
| XM_024447451.1:c.355_360delinsA | XP_024303219.1:p.Ser119AsnfsTer8 | |
| NM_000136.3:c.355_360delinsA MANE Select | NP_000127.2:p.Ser119AsnfsTer8 | |
| NM_001243743.2:c.355_360delinsA | NP_001230672.1:p.Ser119AsnfsTer8 | |
| NM_001243744.2:c.355_360delinsA | NP_001230673.1:p.Ser119AsnfsTer8 |