Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732823_115732827del , CM000663.2:g.115732823_115732827del | GRCh38 |
| NC_000001.10:g.116275444_116275448del , CM000663.1:g.116275444_116275448del | GRCh37 |
| NC_000001.9:g.116076967_116076971del | NCBI36 |
| NG_008802.1:g.40987_40991del , LRG_404:g.40987_40991del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.330+82_330+86del | ENSP00000518226.1:n.330+82_330+86del | |
| ENST00000261448.6:c.606+82_606+86del MANE Select | ENSP00000261448.5:n.606+82_606+86del | |
| ENST00000261448.5:c.606+82_606+86del | ENSP00000261448.5:n.606+82_606+86del | |
| ENST00000488931.1:n.27+82_27+86del | ||
| NM_001232.3:c.606+82_606+86del , LRG_404t1:c.606+82_606+86del | NP_001223.2:n.606+82_606+86del | |
| NM_001232.4:c.606+82_606+86del MANE Select | NP_001223.2:n.606+82_606+86del |