Linked Data
ClinVar Variation Id:
1927520
ClinVar RCV Id:
RCV002609917
gnomAD v4:
9-99221643-G-GCGGCCGCCC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.99221645_99221653dup , CM000671.2:g.99221645_99221653dup | GRCh38 |
| NC_000009.11:g.101983927_101983935dup , CM000671.1:g.101983927_101983935dup | GRCh37 |
| NC_000009.10:g.101023748_101023756dup | NCBI36 |
| NG_008928.1:g.5313_5321dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476832.2:c.243_251dup MANE Select | ENSP00000417764.1:p.Arg84_Gly85insGlyGlyArg | |
| ENST00000238477.5:c.243_251dup | ENSP00000432675.2:p.Arg84_Gly85insGlyGlyArg | |
| ENST00000476832.1:c.243_251dup | ENSP00000417764.1:p.Arg84_Gly85insGlyGlyArg | |
| NM_033087.3:c.243_251dup | NP_149078.1:p.Arg84_Gly85insGlyGlyArg | |
| NR_024532.1:n.313_321dup | ||
| NM_033087.4:c.243_251dup MANE Select | NP_149078.1:p.Arg84_Gly85insGlyGlyArg | |
| NR_024532.2:n.291_299dup |