Linked Data
gnomAD v4:
15-73367773-C-CGGCGGCGAGGCTGCGGGCTGCGCCGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73367778_73367803dup , CM000677.2:g.73367778_73367803dup | GRCh38 |
| NC_000015.9:g.73660119_73660144dup , CM000677.1:g.73660119_73660144dup | GRCh37 |
| NC_000015.8:g.71447172_71447197dup | NCBI36 |
| NG_009063.1:g.6466_6491dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.472_497dup MANE Select | ENSP00000261917.3:p.Pro167ArgfsTer? | |
| ENST00000261917.3:c.472_497dup | ENSP00000261917.3:p.Pro167ArgfsTer? | |
| NM_005477.2:c.472_497dup | NP_005468.1:p.Pro167ArgfsTer? | |
| NM_005477.3:c.472_497dup MANE Select | NP_005468.1:p.Pro167ArgfsTer? |