Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.48965350_48965365del , CM000681.2:g.48965350_48965365del | GRCh38 |
| NC_000019.9:g.49468607_49468622del , CM000681.1:g.49468607_49468622del | GRCh37 |
| NC_000019.8:g.54160419_54160434del | NCBI36 |
| NG_008152.1:g.5042_5057del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331825.11:c.-158_-143del MANE Select | ENSP00000366525.2:n.-158_-143del | |
| ENST00000331825.10:c.-158_-143del | ENSP00000366525.2:n.-158_-143del | |
| ENST00000622577.2:c.-158_-143del | ENSP00000484043.1:n.-158_-143del | |
| NM_000146.3:c.-158_-143del | NP_000137.2:n.-158_-143del | |
| XM_024451447.1:c.353_368del | XP_024307215.1:p.Val118AspfsTer? | |
| NM_000146.4:c.-158_-143del MANE Select | NP_000137.2:n.-158_-143del |