Linked Data
gnomAD v4:
1-1232502-T-TGATCCGCAGCAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232504_1232515dup , CM000663.2:g.1232504_1232515dup | GRCh38 |
| NC_000001.10:g.1167884_1167895dup , CM000663.1:g.1167884_1167895dup | GRCh37 |
| NC_000001.9:g.1157747_1157758dup | NCBI36 |
| NG_030007.1:g.4554_4565dup | |
| NG_033265.1:g.5256_5267dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.226_237dup MANE Select | ENSP00000368496.2:p.Thr79_Trp80insIleArgSerThr | |
| ENST00000379198.3:c.226_237dup | ENSP00000368496.2:p.Thr79_Trp80insIleArgSerThr | |
| NM_080605.3:c.226_237dup | NP_542172.2:p.Thr79_Trp80insIleArgSerThr | |
| NM_080605.4:c.226_237dup MANE Select | NP_542172.2:p.Thr79_Trp80insIleArgSerThr |