Linked Data
gnomAD v4:
4-39446735-TCC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39446736_39446737del , CM000666.2:g.39446736_39446737del | GRCh38 |
| NC_000004.11:g.39448356_39448357del , CM000666.1:g.39448356_39448357del | GRCh37 |
| NC_000004.10:g.39124751_39124752del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257408.5:c.2010_2011del MANE Select | ENSP00000257408.4:p.Phe670LeufsTer25 | |
| ENST00000257408.4:c.2010_2011del | ENSP00000257408.4:p.Phe670LeufsTer25 | |
| NM_175737.3:c.2010_2011del | NP_783864.1:p.Phe670LeufsTer25 | |
| XM_005262644.1:c.1983_1984del | XP_005262701.1:p.Phe661LeufsTer25 | |
| NM_175737.4:c.2010_2011del MANE Select | NP_783864.1:p.Phe670LeufsTer25 |