Linked Data
dbSNP Id:
rs754802485
gnomAD v2:
8-18257749-T-TGACCACAATCGGTTTTCA
gnomAD v4:
8-18400239-T-TGACCACAATCGGTTTTCA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.18400249_18400266dup , CM000670.2:g.18400249_18400266dup | GRCh38 |
| NC_000008.10:g.18257759_18257776dup , CM000670.1:g.18257759_18257776dup | GRCh37 |
| NC_000008.9:g.18302039_18302056dup | NCBI36 |
| NG_012246.1:g.14005_14022dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000286479.4:c.246_263dup MANE Select | ENSP00000286479.3:p.Thr87_Met88insIleGlyP... | |
| ENST00000286479.3:c.246_263dup | ENSP00000286479.3:p.Thr87_Met88insIleGlyP... | |
| ENST00000520116.1:c.-57-88_-57-71dup | ENSP00000428416.1:n.-57-88_-57-71dup | |
| NM_000015.2:c.246_263dup | NP_000006.2:p.Thr87_Met88insIleGlyPheGlnT... | |
| XM_011544358.1:c.246_263dup | XP_011542660.1:p.Thr87_Met88insIleGlyPheG... | |
| XM_017012938.1:c.246_263dup | XP_016868427.1:p.Thr87_Met88insIleGlyPheG... | |
| NM_000015.3:c.246_263dup MANE Select | NP_000006.2:p.Thr87_Met88insIleGlyPheGlnT... |