Linked Data
dbSNP Id:
rs746452449
ExAC:
4:68606258 AAAG / A
gnomAD v2:
4-68606258-AAAG-A
gnomAD v3:
4-67740540-AAAG-A
gnomAD v4:
4-67740540-AAAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740547_67740549del , CM000666.2:g.67740547_67740549del | GRCh38 |
| NC_000004.11:g.68606265_68606267del , CM000666.1:g.68606265_68606267del | GRCh37 |
| NC_000004.10:g.68288860_68288862del | NCBI36 |
| NG_009293.1:g.20544_20546del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.924_926del MANE Select | ENSP00000226413.5:p.Phe309del | |
| ENST00000226413.4:c.924_926del | ENSP00000226413.4:p.Phe309del | |
| ENST00000420975.2:c.796_798del | ENSP00000397561.2:n.796_798del | |
| NM_000406.2:c.924_926del | NP_000397.1:p.Phe309del | |
| NM_001012763.1:c.*46_*48del | NP_001012781.1:n.*46_*48del | |
| NM_000406.3:c.924_926del MANE Select | NP_000397.1:p.Phe309del | |
| NM_001012763.2:c.*46_*48del | NP_001012781.1:n.*46_*48del |