Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188997382_188997394del , CM000664.2:g.188997382_188997394del | GRCh38 |
| NC_000002.11:g.189862108_189862120del , CM000664.1:g.189862108_189862120del | GRCh37 |
| NC_000002.10:g.189570353_189570365del | NCBI36 |
| NG_007404.1:g.28010_28022del , LRG_3:g.28010_28022del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1763_1770+5del | ||
| ENST00000304636.9:c.1862_1869+5del | ||
| ENST00000304636.7:c.1862_1869+5del | ||
| ENST00000317840.9:c.1862_1869+5del | ||
| NM_000090.3:c.1862_1869+5del , LRG_3t1:c.1862_1869+5del | ||
| NM_000090.4:c.1862_1869+5del |