Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188991722_188991736del , CM000664.2:g.188991722_188991736del | GRCh38 |
| NC_000002.11:g.189856448_189856462del , CM000664.1:g.189856448_189856462del | GRCh37 |
| NC_000002.10:g.189564693_189564707del | NCBI36 |
| NG_007404.1:g.22350_22364del , LRG_3:g.22350_22364del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000090.3:c.951_951+14del , LRG_3t1:c.951_951+14del | |
| NM_000090.4:c.951_951+14del | |
| ENST00000304636.7:c.951_951+14del | |
| ENST00000304636.9:c.951_951+14del | |
| ENST00000317840.9:c.951_951+14del | |
| ENST00000450867.1:c.49_49+14del | |
| ENST00000450867.2:c.951_951+14del |