Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768480del , CM000663.2:g.115768480del | GRCh38 |
| NC_000001.10:g.116311101del , CM000663.1:g.116311101del | GRCh37 |
| NC_000001.9:g.116112624del | NCBI36 |
| NG_008802.1:g.5326del , LRG_404:g.5326del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-215del | ENSP00000518226.1:n.-215del | |
| ENST00000261448.6:c.62del MANE Select | ENSP00000261448.5:p.Glu21GlyfsTer15 | |
| ENST00000261448.5:c.62del | ENSP00000261448.5:p.Glu21GlyfsTer15 | |
| NM_001232.3:c.62del , LRG_404t1:c.62del | NP_001223.2:p.Glu21GlyfsTer15 | |
| NM_001232.4:c.62del MANE Select | NP_001223.2:p.Glu21GlyfsTer15 |