Linked Data
gnomAD v4:
4-42963203-C-CTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.42963206_42963207dup , CM000666.2:g.42963206_42963207dup | GRCh38 |
| NC_000004.11:g.42965223_42965224dup , CM000666.1:g.42965223_42965224dup | GRCh37 |
| NC_000004.10:g.42659980_42659981dup | NCBI36 |
| NG_027718.1:g.74941_74942dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399770.3:c.627+72_627+73dup MANE Select | ENSP00000382670.2:n.627+72_627+73dup | |
| ENST00000399770.2:c.627+72_627+73dup | ENSP00000382670.2:n.627+72_627+73dup | |
| NM_001080476.2:c.627+72_627+73dup | NP_001073945.1:n.627+72_627+73dup | |
| XM_011513691.1:c.264+72_264+73dup | XP_011511993.1:n.264+72_264+73dup | |
| NM_001080476.3:c.627+72_627+73dup MANE Select | NP_001073945.1:n.627+72_627+73dup |