Linked Data
gnomAD v4:
6-49459285-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.49459286dup , CM000668.2:g.49459286dup | GRCh38 |
| NC_000006.11:g.49426999dup , CM000668.1:g.49426999dup | GRCh37 |
| NC_000006.10:g.49534958dup | NCBI36 |
| NG_007100.1:g.8854dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274813.4:c.181dup MANE Select | ENSP00000274813.3:p.Trp61LeufsTer23 | |
| ENST00000274813.3:c.181dup | ENSP00000274813.3:p.Trp61LeufsTer23 | |
| NM_000255.3:c.181dup | NP_000246.2:p.Trp61LeufsTer23 | |
| XM_005249143.2:c.181dup | XP_005249200.1:p.Trp61LeufsTer23 | |
| XM_005249143.3:c.181dup | XP_005249200.1:p.Trp61LeufsTer23 | |
| NM_000255.4:c.181dup MANE Select | NP_000246.2:p.Trp61LeufsTer23 |