Linked Data
gnomAD v4:
4-67740519-TGGGTTTAAAAA-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67740522_67740532del , CM000666.2:g.67740522_67740532del | GRCh38 |
| NC_000004.11:g.68606240_68606250del , CM000666.1:g.68606240_68606250del | GRCh37 |
| NC_000004.10:g.68288835_68288845del | NCBI36 |
| NG_009293.1:g.20557_20567del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.937_947del MANE Select | ENSP00000226413.5:p.Phe313MetfsTer3 | |
| ENST00000226413.4:c.937_947del | ENSP00000226413.4:p.Phe313MetfsTer3 | |
| ENST00000420975.2:c.809_819del | ENSP00000397561.2:n.809_819del | |
| NM_000406.2:c.937_947del | NP_000397.1:p.Phe313MetfsTer3 | |
| NM_001012763.1:c.*59_*69del | NP_001012781.1:n.*59_*69del | |
| NM_000406.3:c.937_947del MANE Select | NP_000397.1:p.Phe313MetfsTer3 | |
| NM_001012763.2:c.*59_*69del | NP_001012781.1:n.*59_*69del |