Linked Data
gnomAD v4:
4-24799802-A-ACGCCTTCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.24799807_24799815dup , CM000666.2:g.24799807_24799815dup | GRCh38 |
| NC_000004.11:g.24801429_24801437dup , CM000666.1:g.24801429_24801437dup | GRCh37 |
| NC_000004.10:g.24410527_24410535dup | NCBI36 |
| NG_012213.1:g.9345_9353dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382120.4:c.286_294dup MANE Select | ENSP00000371554.3:p.Ala98_Leu99insPhePheAla | |
| ENST00000382120.3:c.286_294dup | ENSP00000371554.3:p.Ala98_Leu99insPhePheAla | |
| NM_003102.2:c.286_294dup | NP_003093.2:p.Ala98_Leu99insPhePheAla | |
| XR_427488.1:n.476_484dup | ||
| NM_003102.3:c.286_294dup | NP_003093.2:p.Ala98_Leu99insPhePheAla | |
| NM_003102.4:c.286_294dup MANE Select | NP_003093.2:p.Ala98_Leu99insPhePheAla |