Linked Data
ClinVar Variation Id:
35514
ClinVar RCV Id:
RCV000029175
dbSNP Id:
rs886037630
MyVariant Identifiers:
chr9:g.71668163_71668168delinsTACACCTTGAGGACA (hg19)
chr9:g.69053247_69053252delinsTACACCTTGAGGACA (hg38)
PubMed:
PMID:21830088
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.69053247_69053252delinsTACACCTTGAGGACA , CM000671.2:g.69053247_69053252delinsTACACCTTGAGGACA | GRCh38 |
| NC_000009.11:g.71668163_71668168delinsTACACCTTGAGGACA , CM000671.1:g.71668163_71668168delinsTACACCTTGAGGACA | GRCh37 |
| NC_000009.10:g.70857983_70857988delinsTACACCTTGAGGACA | NCBI36 |
| NG_008845.2:g.22685_22690delinsTACACCTTGAGGACA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000377270.8:c.146_151delinsTACACCTTGAGGACA | ENSP00000366482.4:p.Asp49_Ser51delinsValH... | |
| ENST00000484259.3:c.371_376delinsTACACCTTGAGGACA MANE Select | ENSP00000419243.2:p.Asp124_Ser126delinsVa... | |
| ENST00000642330.1:c.371_376delinsTACACCTTGAGGACA | ENSP00000493770.1:p.Asp124_Ser126delinsVa... | |
| ENST00000642889.1:c.165+17300_165+17305delinsTACACCTTGAGGACA | ENSP00000493780.1:n.165+17300_165+17305de... | |
| ENST00000643352.1:c.371_376delinsTACACCTTGAGGACA | ENSP00000496488.1:p.Asp124_Ser126delinsVa... | |
| ENST00000643765.1:c.369_374delinsTACACCTTGAGGACA | ||
| ENST00000644653.1:c.263+6765_263+6770delinsTACACCTTGAGGACA | ENSP00000495217.1:n.263+6765_263+6770deli... | |
| ENST00000644977.1:c.*96_*101delinsTACACCTTGAGGACA | ENSP00000495651.1:n.*96_*101delinsTACACCT... | |
| ENST00000645088.1:c.263+6765_263+6770delinsTACACCTTGAGGACA | ENSP00000495447.1:n.263+6765_263+6770deli... | |
| ENST00000646862.1:c.371_376delinsTACACCTTGAGGACA | ENSP00000494599.1:p.Asp124_Ser126delinsVa... | |
| ENST00000377270.7:c.371_376delinsTACACCTTGAGGACA | ENSP00000366482.3:p.Asp124_Ser126delinsVa... | |
| ENST00000396364.7:c.371_376delinsTACACCTTGAGGACA | ENSP00000379650.3:p.Asp124_Ser126delinsVa... | |
| ENST00000396366.6:c.371_376delinsTACACCTTGAGGACA | ENSP00000379652.2:p.Asp124_Ser126delinsVa... | |
| ENST00000484259.1:c.76+6765_76+6770delinsTACACCTTGAGGACA | ||
| ENST00000498653.5:c.146_151delinsTACACCTTGAGGACA | ENSP00000418015.1:p.Asp49_Ser51delinsValH... | |
| NM_000144.4:c.371_376delinsTACACCTTGAGGACA | NP_000135.2:p.Asp124_Ser126delinsValHisLe... | |
| NM_001161706.1:c.371_376delinsTACACCTTGAGGACA | NP_001155178.1:p.Asp124_Ser126delinsValHi... | |
| NM_181425.2:c.371_376delinsTACACCTTGAGGACA | NP_852090.1:p.Asp124_Ser126delinsValHisLe... | |
| NM_000144.5:c.371_376delinsTACACCTTGAGGACA MANE Select | NP_000135.2:p.Asp124_Ser126delinsValHisLe... | |
| NM_181425.3:c.371_376delinsTACACCTTGAGGACA | NP_852090.1:p.Asp124_Ser126delinsValHisLe... |