Linked Data
gnomAD v4:
17-42536274-T-TGGAGGCGGTGGCGGTGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536275_42536292dup , CM000679.2:g.42536275_42536292dup | GRCh38 |
| NC_000017.10:g.40688293_40688310dup , CM000679.1:g.40688293_40688310dup | GRCh37 |
| NC_000017.9:g.37941819_37941836dup | NCBI36 |
| NG_011552.1:g.5343_5360dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.3_20dup MANE Select | ENSP00000225927.1:p.Ala7_Ala8insGluAlaValAlaValAla | |
| ENST00000225927.6:c.3_20dup | ENSP00000225927.1:p.Ala7_Ala8insGluAlaValAlaValAla | |
| NM_000263.3:c.3_20dup | NP_000254.2:p.Ala7_Ala8insGluAlaValAlaValAla | |
| XM_024450771.1:c.3_20dup | XP_024306539.1:p.Ala7_Ala8insGluAlaValAlaValAla | |
| NM_000263.4:c.3_20dup MANE Select | NP_000254.2:p.Ala7_Ala8insGluAlaValAlaValAla |