Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1213468dup , CM000667.2:g.1213468dup | GRCh38 |
| NC_000005.9:g.1213583dup , CM000667.1:g.1213583dup | GRCh37 |
| NC_000005.8:g.1266583dup | NCBI36 |
| NG_008282.1:g.16874dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304460.11:c.669dup MANE Select | ENSP00000305302.10:p.Tyr224ValfsTer? | |
| ENST00000304460.10:c.669dup | ENSP00000305302.10:p.Tyr224ValfsTer? | |
| ENST00000515652.5:c.577dup | ENSP00000425701.1:p.Val193GlyfsTer12 | |
| NM_001003841.2:c.669dup | NP_001003841.1:p.Tyr224ValfsTer? | |
| NM_001003841.3:c.669dup MANE Select | NP_001003841.1:p.Tyr224ValfsTer? |