Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.150860706_150860708del , CM000667.2:g.150860706_150860708del | GRCh38 |
| NC_000005.9:g.150240268_150240270del , CM000667.1:g.150240268_150240270del | GRCh37 |
| NC_000005.8:g.150220461_150220463del | NCBI36 |
| NG_027809.2:g.19184_19186del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000520549.1:c.158+12052_158+12054del | ||
| XM_011537641.1:c.531+12052_531+12054del | XP_011535943.1:n.531+12052_531+12054del | |
| NM_001346557.1:c.531+12052_531+12054del | NP_001333486.1:n.531+12052_531+12054del | |
| NM_001346557.2:c.531+12052_531+12054del | NP_001333486.1:n.531+12052_531+12054del | |
| NR_170598.1:n.1646+12052_1646+12054del |