Linked Data
gnomAD v4:
4-68670422-GCATTGACAAGAGTAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670423_68670438del , CM000666.2:g.68670423_68670438del | GRCh38 |
| NC_000004.11:g.69536141_69536156del , CM000666.1:g.69536141_69536156del | GRCh37 |
| NC_000004.10:g.69218736_69218751del | NCBI36 |
| NG_052676.1:g.5339_5354del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.181_196del MANE Select | ENSP00000341045.5:p.Ser61ProfsTer9 | |
| ENST00000338206.5:c.181_196del | ENSP00000341045.5:p.Ser61ProfsTer9 | |
| ENST00000616841.4:c.181_196del | ENSP00000482004.1:p.Ser61ProfsTer9 | |
| NM_001076.3:c.181_196del | NP_001067.2:p.Ser61ProfsTer9 | |
| NM_001076.4:c.181_196del MANE Select | NP_001067.2:p.Ser61ProfsTer9 |