Linked Data
ClinVar Variation Id:
6899
ClinVar RCV Id:
RCV000007308
dbSNP Id:
rs587776645
MyVariant Identifiers:
chr11:g.111965551_111965552insT (hg19)
chr11:g.112094827_112094828insT (hg38)
PubMed:
PMID:11343322
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112094827_112094828insT , CM000673.2:g.112094827_112094828insT | GRCh38 |
| NC_000011.9:g.111965551_111965552insT , CM000673.1:g.111965551_111965552insT | GRCh37 |
| NC_000011.8:g.111470761_111470762insT | NCBI36 |
| NG_012337.2:g.12981_12982insT | |
| NG_012337.3:g.12981_12982insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000530923.6:c.*76_*77insT | ENSP00000432946.2:n.*76_*77insT | |
| ENST00000534010.2:c.314+5816_314+5817insT | ENSP00000433202.2:n.314+5816_314+5817insT... | |
| ENST00000375549.8:c.337_338insT MANE Select | ENSP00000364699.3:p.Asp113ValfsTer? | |
| ENST00000528021.6:c.314+5816_314+5817insT | ENSP00000432465.1:n.314+5816_314+5817insT... | |
| ENST00000375549.7:c.337_338insT | ENSP00000364699.3:p.Asp113ValfsTer? | |
| ENST00000525291.5:c.220_221insT | ENSP00000436669.1:p.Asp74ValfsTer? | |
| ENST00000525987.5:n.319+5816_319+5817insT | ||
| ENST00000526592.5:c.*35_*36insT | ENSP00000432005.1:n.*35_*36insT | |
| ENST00000528021.5:c.314+5816_314+5817insT | ENSP00000432465.1:n.314+5816_314+5817insT... | |
| ENST00000528048.5:c.192_193insT | ENSP00000436217.1:p.Thr65TyrfsTer? | |
| ENST00000528182.5:c.330_331insT | ENSP00000435475.1:p.Thr111TyrfsTer? | |
| ENST00000530923.5:c.381_382insT | ||
| ENST00000531744.5:c.314+5816_314+5817insT | ENSP00000456957.1:n.314+5816_314+5817insT... | |
| ENST00000532699.1:c.314+5816_314+5817insT | ENSP00000456434.1:n.314+5816_314+5817insT... | |
| ENST00000534010.1:c.145+5816_145+5817insT | ||
| NM_001276503.1:c.192_193insT | NP_001263432.1:p.Thr65TyrfsTer? | |
| NM_001276504.1:c.220_221insT | NP_001263433.1:p.Asp74ValfsTer? | |
| NM_001276506.1:c.*35_*36insT | NP_001263435.1:n.*35_*36insT | |
| NM_003002.3:c.337_338insT | NP_002993.1:p.Asp113ValfsTer? | |
| NR_077060.1:n.475_476insT | ||
| NM_003002.4:c.337_338insT MANE Select | NP_002993.1:p.Asp113ValfsTer? | |
| NM_001276503.2:c.192_193insT | NP_001263432.1:p.Thr65TyrfsTer? | |
| NM_001276504.2:c.220_221insT | NP_001263433.1:p.Asp74ValfsTer? | |
| NM_001276506.2:c.*35_*36insT | NP_001263435.1:n.*35_*36insT | |
| NR_077060.2:n.426_427insT |