Linked Data
ClinVar Variation Id:
553023
dbSNP Id:
rs1554901690
MyVariant Identifiers:
chr11:g.17387321_17387327dup (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17387321_17387327dup , CM000673.2:g.17387321_17387327dup | GRCh38 |
| NC_000011.9:g.17408868_17408874dup , CM000673.1:g.17408868_17408874dup | GRCh37 |
| NC_000011.8:g.17365444_17365450dup | NCBI36 |
| NG_012446.1:g.6333_6339dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682350.1:c.504_510dup | ENSP00000508090.1:p.Tyr171AspfsTer7 | |
| ENST00000682764.1:c.504_510dup | ENSP00000506780.1:p.Tyr171AspfsTer7 | |
| ENST00000339994.5:c.765_771dup MANE Select | ENSP00000345708.4:p.Tyr258AspfsTer7 | |
| ENST00000339994.4:c.765_771dup | ENSP00000345708.4:p.Tyr258AspfsTer7 | |
| ENST00000528731.1:c.504_510dup | ENSP00000434755.1:p.Tyr171AspfsTer7 | |
| NM_000525.3:c.765_771dup | NP_000516.3:p.Tyr258AspfsTer7 | |
| NM_001166290.1:c.504_510dup | NP_001159762.1:p.Tyr171AspfsTer7 | |
| XM_006718226.2:c.504_510dup | XP_006718289.1:p.Tyr171AspfsTer7 | |
| XR_930867.1:n.923_929dup | ||
| XM_006718226.3:c.504_510dup | XP_006718289.1:p.Tyr171AspfsTer7 | |
| XM_017017680.1:c.504_510dup | XP_016873169.1:p.Tyr171AspfsTer7 | |
| NM_001166290.2:c.504_510dup | NP_001159762.1:p.Tyr171AspfsTer7 | |
| NM_001377296.1:c.504_510dup | NP_001364225.1:p.Tyr171AspfsTer7 | |
| NM_001377297.1:c.504_510dup | NP_001364226.1:p.Tyr171AspfsTer7 | |
| NM_000525.4:c.765_771dup MANE Select | NP_000516.3:p.Tyr258AspfsTer7 |