Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424050_23424052del , CM000676.2:g.23424050_23424052del | GRCh38 |
| NC_000014.8:g.23893259_23893261del , CM000676.1:g.23893259_23893261del | GRCh37 |
| NC_000014.7:g.22963099_22963101del | NCBI36 |
| NG_007884.1:g.16610_16612del , LRG_384:g.16610_16612del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2777_2779del MANE Select | ENSP00000347507.3:p.Leu926_Glu927delinsGln | |
| ENST00000355349.3:c.2777_2779del | ENSP00000347507.3:p.Leu926_Glu927delinsGln | |
| NM_000257.3:c.2777_2779del | NP_000248.2:p.Leu926_Glu927delinsGln | |
| XR_245686.3:n.2883_2885del | ||
| XM_017021340.1:c.2777_2779del | XP_016876829.1:p.Leu926_Glu927delinsGln | |
| NM_000257.4:c.2777_2779del MANE Select | NP_000248.2:p.Leu926_Glu927delinsGln |