Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23417666_23417668del , CM000676.2:g.23417666_23417668del | GRCh38 |
| NC_000014.8:g.23886875_23886877del , CM000676.1:g.23886875_23886877del | GRCh37 |
| NC_000014.7:g.22956715_22956717del | NCBI36 |
| NG_007884.1:g.22996_22998del , LRG_384:g.22996_22998del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.4190_4192del MANE Select | ENSP00000347507.3:p.Leu1397del | |
| ENST00000355349.3:c.4190_4192del | ENSP00000347507.3:p.Leu1397del | |
| NM_000257.3:c.4190_4192del | NP_000248.2:p.Leu1397del | |
| XM_017021340.1:c.4190_4192del | XP_016876829.1:p.Leu1397del | |
| NM_000257.4:c.4190_4192del MANE Select | NP_000248.2:p.Leu1397del |