Linked Data
gnomAD v4:
10-30313764-G-GC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30313765dup , CM000672.2:g.30313765dup | GRCh38 |
| NC_000010.10:g.30602694dup , CM000672.1:g.30602694dup | GRCh37 |
| NC_000010.9:g.30642700dup | NCBI36 |
| NG_028096.1:g.40574dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1593dup MANE Select | ENSP00000263063.3:p.Leu532AlafsTer17 | |
| ENST00000263063.8:c.1593dup | ENSP00000263063.3:p.Leu532AlafsTer17 | |
| ENST00000488290.5:n.3348dup | ||
| NM_018109.3:c.1593dup | NP_060579.3:p.Leu532AlafsTer17 | |
| NM_018109.4:c.1593dup MANE Select | NP_060579.3:p.Leu532AlafsTer17 |