Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.188996496_188996508del , CM000664.2:g.188996496_188996508del | GRCh38 |
| NC_000002.11:g.189861222_189861234del , CM000664.1:g.189861222_189861234del | GRCh37 |
| NC_000002.10:g.189569467_189569479del | NCBI36 |
| NG_007404.1:g.27124_27136del , LRG_3:g.27124_27136del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450867.2:c.1662_1662+12del | ||
| ENST00000304636.9:c.1761_1761+12del | ||
| ENST00000304636.7:c.1761_1761+12del | ||
| ENST00000317840.9:c.1761_1761+12del | ||
| NM_000090.3:c.1761_1761+12del , LRG_3t1:c.1761_1761+12del | ||
| NM_000090.4:c.1761_1761+12del |