Linked Data
ClinVar Variation Id:
2015353
ClinVar RCV Id:
RCV002839411
gnomAD v4:
17-42538699-C-CGGCAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42538701_42538705dup , CM000679.2:g.42538701_42538705dup | GRCh38 |
| NC_000017.10:g.40690719_40690723dup , CM000679.1:g.40690719_40690723dup | GRCh37 |
| NC_000017.9:g.37944245_37944249dup | NCBI36 |
| NG_011552.1:g.7769_7773dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.710_714dup MANE Select | ENSP00000225927.1:p.Thr239AlafsTer2 | |
| ENST00000225927.6:c.710_714dup | ENSP00000225927.1:p.Thr239AlafsTer2 | |
| ENST00000586516.5:c.312_316dup | ||
| ENST00000591587.1:c.305_309dup | ENSP00000467836.1:p.Thr104AlafsTer2 | |
| NM_000263.3:c.710_714dup | NP_000254.2:p.Thr239AlafsTer2 | |
| XM_006721920.2:c.-33_-29dup | XP_006721983.1:n.-33_-29dup | |
| XM_011524840.1:c.-33_-29dup | XP_011523142.1:n.-33_-29dup | |
| XM_017024687.1:c.-33_-29dup | XP_016880176.1:n.-33_-29dup | |
| XM_024450771.1:c.767_771dup | XP_024306539.1:p.Thr258AlafsTer2 | |
| XM_024450772.1:c.-33_-29dup | XP_024306540.1:n.-33_-29dup | |
| NM_000263.4:c.710_714dup MANE Select | NP_000254.2:p.Thr239AlafsTer2 |