Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188999381_188999394del , CM000664.2:g.188999381_188999394del | GRCh38 |
| NC_000002.11:g.189864107_189864120del , CM000664.1:g.189864107_189864120del | GRCh37 |
| NC_000002.10:g.189572352_189572365del | NCBI36 |
| NG_007404.1:g.30009_30022del , LRG_3:g.30009_30022del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.2020_2022+11del | ||
| ENST00000304636.9:c.2119_2121+11del | ||
| ENST00000304636.7:c.2119_2121+11del | ||
| ENST00000317840.9:c.2119_2121+11del | ||
| NM_000090.3:c.2119_2121+11del , LRG_3t1:c.2119_2121+11del | ||
| NM_000090.4:c.2119_2121+11del |