Linked Data
gnomAD v2:
4-69535959-C-CTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670242_68670243dup , CM000666.2:g.68670242_68670243dup | GRCh38 |
| NC_000004.11:g.69535960_69535961dup , CM000666.1:g.69535960_69535961dup | GRCh37 |
| NC_000004.10:g.69218555_69218556dup | NCBI36 |
| NG_052676.1:g.5534_5535dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.376_377dup MANE Select | ENSP00000341045.5:p.Leu127SerfsTer8 | |
| ENST00000338206.5:c.376_377dup | ENSP00000341045.5:p.Leu127SerfsTer8 | |
| ENST00000616841.4:c.376_377dup | ENSP00000482004.1:p.Leu127SerfsTer8 | |
| NM_001076.3:c.376_377dup | NP_001067.2:p.Leu127SerfsTer8 | |
| NM_001076.4:c.376_377dup MANE Select | NP_001067.2:p.Leu127SerfsTer8 |