Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188991059_188991487del , CM000664.2:g.188991059_188991487del | GRCh38 |
| NC_000002.11:g.189855785_189856213del , CM000664.1:g.189855785_189856213del | GRCh37 |
| NC_000002.10:g.189564030_189564458del | NCBI36 |
| NG_007404.1:g.21687_22115del , LRG_3:g.21687_22115del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.852+2_853del | ||
| ENST00000304636.9:c.852+2_853del | ||
| ENST00000304636.7:c.852+2_853del | ||
| ENST00000317840.9:c.852+2_853del | ||
| NM_000090.3:c.852+2_853del , LRG_3t1:c.852+2_853del | ||
| NM_000090.4:c.852+2_853del |