Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.104177767_104177768del , CM000676.2:g.104177767_104177768del | GRCh38 |
| NC_000014.8:g.104644104_104644105del , CM000676.1:g.104644104_104644105del | GRCh37 |
| NC_000014.7:g.103713857_103713858del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015656.2:c.4979_4980del MANE Select | NP_056471.1:p.Tyr1660Ter |
| ENST00000423312.7:c.4979_4980del MANE Select | ENSP00000388241.2:p.Tyr1660Ter |
| NM_015656.1:c.4979_4980del | NP_056471.1:p.Tyr1660Ter |
| ENST00000315264.7:c.4562_4563del | ENSP00000325452.7:p.Tyr1521Ter |
| ENST00000423312.6:c.4979_4980del | ENSP00000388241.2:p.Tyr1660Ter |
| ENST00000697132.1:c.5075_5076del | ENSP00000513129.1:p.Tyr1692Ter |
| XM_011536641.1:c.4052_4053del | XP_011534943.1:p.Tyr1351Ter |
| XM_011536641.2:c.4052_4053del | XP_011534943.1:p.Tyr1351Ter |