Linked Data
gnomAD v4:
9-78300708-A-AG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.78300709dup , CM000671.2:g.78300709dup | GRCh38 |
| NC_000009.11:g.80915625dup , CM000671.1:g.80915625dup | GRCh37 |
| NC_000009.10:g.80105445dup | NCBI36 |
| NG_012165.1:g.8567dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376588.4:c.121+47dup MANE Select | ENSP00000365773.3:n.121+47dup | |
| ENST00000347159.6:c.121+47dup | ENSP00000317606.2:n.121+47dup | |
| ENST00000376588.3:c.121+47dup | ENSP00000365773.3:n.121+47dup | |
| NM_021154.4:c.121+47dup | NP_066977.1:n.121+47dup | |
| NM_058179.3:c.121+47dup | NP_478059.1:n.121+47dup | |
| NM_058179.4:c.121+47dup MANE Select | NP_478059.1:n.121+47dup | |
| NM_021154.5:c.121+47dup | NP_066977.1:n.121+47dup |