Linked Data
dbSNP Id:
rs1252493997
gnomAD v4:
11-17387239-C-CGAT
MyVariant Identifiers:
chr11:g.17408786_17408787insGAT (hg19)
chr11:g.17387239_17387240insGAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387243_17387245dup , CM000673.2:g.17387243_17387245dup | GRCh38 |
| NC_000011.9:g.17408790_17408792dup , CM000673.1:g.17408790_17408792dup | GRCh37 |
| NC_000011.8:g.17365366_17365368dup | NCBI36 |
| NG_012446.1:g.6418_6420dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.589_591dup | ENSP00000508090.1:p.Ile197_Val198insIle | |
| ENST00000682764.1:c.589_591dup | ENSP00000506780.1:p.Ile197_Val198insIle | |
| ENST00000339994.5:c.850_852dup MANE Select | ENSP00000345708.4:p.Ile284_Val285insIle | |
| ENST00000339994.4:c.850_852dup | ENSP00000345708.4:p.Ile284_Val285insIle | |
| ENST00000528731.1:c.589_591dup | ENSP00000434755.1:p.Ile197_Val198insIle | |
| NM_000525.3:c.850_852dup | NP_000516.3:p.Ile284_Val285insIle | |
| NM_001166290.1:c.589_591dup | NP_001159762.1:p.Ile197_Val198insIle | |
| XM_006718226.2:c.589_591dup | XP_006718289.1:p.Ile197_Val198insIle | |
| XR_930867.1:n.1008_1010dup | ||
| XM_006718226.3:c.589_591dup | XP_006718289.1:p.Ile197_Val198insIle | |
| XM_017017680.1:c.589_591dup | XP_016873169.1:p.Ile197_Val198insIle | |
| NM_001166290.2:c.589_591dup | NP_001159762.1:p.Ile197_Val198insIle | |
| NM_001377296.1:c.589_591dup | NP_001364225.1:p.Ile197_Val198insIle | |
| NM_001377297.1:c.589_591dup | NP_001364226.1:p.Ile197_Val198insIle | |
| NM_000525.4:c.850_852dup MANE Select | NP_000516.3:p.Ile284_Val285insIle |