Linked Data
gnomAD v4:
4-68670432-GAGTAGA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.68670435_68670440del , CM000666.2:g.68670435_68670440del | GRCh38 |
| NC_000004.11:g.69536153_69536158del , CM000666.1:g.69536153_69536158del | GRCh37 |
| NC_000004.10:g.69218748_69218753del | NCBI36 |
| NG_052676.1:g.5339_5344del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000338206.6:c.181_186del MANE Select | ENSP00000341045.5:p.Ser61_Thr62del | |
| ENST00000338206.5:c.181_186del | ENSP00000341045.5:p.Ser61_Thr62del | |
| ENST00000616841.4:c.181_186del | ENSP00000482004.1:p.Ser61_Thr62del | |
| NM_001076.3:c.181_186del | NP_001067.2:p.Ser61_Thr62del | |
| NM_001076.4:c.181_186del MANE Select | NP_001067.2:p.Ser61_Thr62del |