Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110573742_110573744del , CM000672.2:g.110573742_110573744del | GRCh38 |
| NC_000010.10:g.112333500_112333502del , CM000672.1:g.112333500_112333502del | GRCh37 |
| NC_000010.9:g.112323490_112323492del | NCBI36 |
| NG_012217.1:g.11052_11054del , LRG_774:g.11052_11054del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684988.1:n.260_262del | ||
| ENST00000687823.1:n.45-1594_45-1592del | ||
| ENST00000689932.1:n.600_602del | ||
| ENST00000691297.1:n.260_262del | ||
| ENST00000691527.1:n.217_219del | ||
| ENST00000692792.1:n.246_248del | ||
| ENST00000361804.5:c.127_129del MANE Select | ENSP00000354720.5:p.Tyr43del | |
| ENST00000361804.4:c.127_129del | ENSP00000354720.4:p.Tyr43del | |
| ENST00000462899.1:n.273_275del | ||
| NM_005445.3:c.127_129del , LRG_774t1:c.127_129del | NP_005436.1:p.Tyr43del | |
| NM_005445.4:c.127_129del MANE Select | NP_005436.1:p.Tyr43del |