Linked Data
gnomAD v4:
4-67753851-AG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67753853del , CM000666.2:g.67753853del | GRCh38 |
| NC_000004.11:g.68619571del , CM000666.1:g.68619571del | GRCh37 |
| NC_000004.10:g.68302166del | NCBI36 |
| NG_009293.1:g.7235del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.484del MANE Select | ENSP00000226413.5:p.Leu162TrpfsTer19 | |
| ENST00000226413.4:c.484del | ENSP00000226413.4:p.Leu162TrpfsTer19 | |
| ENST00000420975.2:c.484del | ENSP00000397561.2:p.Leu162TrpfsTer? | |
| NM_000406.2:c.484del | NP_000397.1:p.Leu162TrpfsTer19 | |
| NM_001012763.1:c.484del | NP_001012781.1:p.Leu162TrpfsTer? | |
| NM_000406.3:c.484del MANE Select | NP_000397.1:p.Leu162TrpfsTer19 | |
| NM_001012763.2:c.484del | NP_001012781.1:p.Leu162TrpfsTer? |