Linked Data
gnomAD v4:
X-25013608-T-TGGCGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.25013611_25013616dup , CM000685.2:g.25013611_25013616dup | GRCh38 |
| NC_000023.10:g.25031728_25031733dup , CM000685.1:g.25031728_25031733dup | GRCh37 |
| NC_000023.9:g.24941649_24941654dup | NCBI36 |
| NG_008281.1:g.7335_7340dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379044.5:c.381_386dup MANE Select | ENSP00000368332.4:p.Pro129_Pro130insProPro | |
| ENST00000379044.4:c.381_386dup | ENSP00000368332.4:p.Pro129_Pro130insProPro | |
| NM_139058.2:c.381_386dup | NP_620689.1:p.Pro129_Pro130insProPro | |
| NM_139058.3:c.381_386dup MANE Select | NP_620689.1:p.Pro129_Pro130insProPro |