Linked Data
dbSNP Id:
rs1565118200
gnomAD v2:
11-17633871-T-TGCCTGTGAGTCATGGGATC
gnomAD v4:
11-17612324-T-TGCCTGTGAGTCATGGGATC
MyVariant Identifiers:
chr11:g.17633871_17633872insGCCTGTGAGTCATGGGATC (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612325_17612326insCCTGTGAGTCATGGGATCG , CM000673.2:g.17612325_17612326insCCTGTGAGTCATGGGATCG | GRCh38 |
| NC_000011.9:g.17633872_17633873insCCTGTGAGTCATGGGATCG , CM000673.1:g.17633872_17633873insCCTGTGAGTCATGGGATCG | GRCh37 |
| NC_000011.8:g.17590448_17590449insCCTGTGAGTCATGGGATCG | NCBI36 |
| NG_033191.1:g.69953_69954insCCTGTGAGTCATGGGATCG | |
| NG_033191.2:g.69953_69954insCCTGTGAGTCATGGGATCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6323_6324insCCTGTGAGTCATGGGATCG | ENSP00000382323.2:p.Ala2109LeufsTer2 | |
| ENST00000399397.6:c.6287_6288insCCTGTGAGTCATGGGATCG MANE Select | ENSP00000382329.2:p.Ala2097LeufsTer2 | |
| ENST00000342528.2:c.3341_3342insCCTGTGAGTCATGGGATCG | ENSP00000341666.2:p.Ala1115LeufsTer2 | |
| ENST00000399391.6:c.6323_6324insCCTGTGAGTCATGGGATCG | ENSP00000382323.2:p.Ala2109LeufsTer2 | |
| ENST00000399397.5:c.6287_6288insCCTGTGAGTCATGGGATCG | ENSP00000382329.2:p.Ala2097LeufsTer2 | |
| NM_001277269.1:c.6323_6324insCCTGTGAGTCATGGGATCG | NP_001264198.1:p.Ala2109LeufsTer2 | |
| NM_001292063.1:c.6287_6288insCCTGTGAGTCATGGGATCG | NP_001278992.1:p.Ala2097LeufsTer2 | |
| NM_001277269.2:c.6323_6324insCCTGTGAGTCATGGGATCG | NP_001264198.1:p.Ala2109LeufsTer2 | |
| NM_001292063.2:c.6287_6288insCCTGTGAGTCATGGGATCG MANE Select | NP_001278992.1:p.Ala2097LeufsTer2 |