Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.40354471_40354472del , CM000666.2:g.40354471_40354472del | GRCh38 |
| NC_000004.11:g.40356488_40356489del , CM000666.1:g.40356488_40356489del | GRCh37 |
| NC_000004.10:g.40051245_40051246del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310169.3:c.1391_1392del MANE Select | ENSP00000312663.2:p.Phe464TyrfsTer? | |
| ENST00000310169.2:c.1391_1392del | ENSP00000312663.2:p.Phe464TyrfsTer? | |
| NM_017581.3:c.1391_1392del | NP_060051.2:p.Phe464TyrfsTer? | |
| NM_017581.4:c.1391_1392del MANE Select | NP_060051.2:p.Phe464TyrfsTer? |