Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420953_23420955del , CM000676.2:g.23420953_23420955del | GRCh38 |
| NC_000014.8:g.23890162_23890164del , CM000676.1:g.23890162_23890164del | GRCh37 |
| NC_000014.7:g.22960002_22960004del | NCBI36 |
| NG_007884.1:g.19708_19710del , LRG_384:g.19708_19710del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3336+4_3336+6del MANE Select | ENSP00000347507.3:n.3336+4_3336+6del | |
| ENST00000355349.3:c.3336+4_3336+6del | ENSP00000347507.3:n.3336+4_3336+6del | |
| NM_000257.3:c.3336+4_3336+6del | NP_000248.2:n.3336+4_3336+6del | |
| XR_245686.3:n.3444+4_3444+6del | ||
| XM_017021340.1:c.3336+4_3336+6del | XP_016876829.1:n.3336+4_3336+6del | |
| NM_000257.4:c.3336+4_3336+6del MANE Select | NP_000248.2:n.3336+4_3336+6del |