Linked Data
gnomAD v4:
4-186085846-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085853dup , CM000666.2:g.186085853dup | GRCh38 |
| NC_000004.11:g.187007007dup , CM000666.1:g.187007007dup | GRCh37 |
| NC_000004.10:g.187244001dup | NCBI36 |
| NG_007278.1:g.21699dup , LRG_117:g.21699dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698352.1:c.*3247dup | ENSP00000513675.1:n.*3247dup | |
| ENST00000698353.1:n.3570dup | ||
| ENST00000698354.1:c.*980dup | ENSP00000513676.1:n.*980dup | |
| ENST00000296795.8:c.*980dup MANE Select | ENSP00000296795.3:n.*980dup | |
| ENST00000296795.7:c.*980dup | ENSP00000296795.2:n.*980dup | |
| NM_003265.3:c.*980dup MANE Select | NP_003256.1:n.*980dup |