Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23422189_23422200del , CM000676.2:g.23422189_23422200del | GRCh38 |
| NC_000014.8:g.23891398_23891409del , CM000676.1:g.23891398_23891409del | GRCh37 |
| NC_000014.7:g.22961238_22961249del | NCBI36 |
| NG_007884.1:g.18466_18477del , LRG_384:g.18466_18477del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3229_3240del MANE Select | ENSP00000347507.3:p.Asp1077_Leu1080del | |
| ENST00000355349.3:c.3229_3240del | ENSP00000347507.3:p.Asp1077_Leu1080del | |
| NM_000257.3:c.3229_3240del | NP_000248.2:p.Asp1077_Leu1080del | |
| XR_245686.3:n.3335_3346del | ||
| XM_017021340.1:c.3229_3240del | XP_016876829.1:p.Asp1077_Leu1080del | |
| NM_000257.4:c.3229_3240del MANE Select | NP_000248.2:p.Asp1077_Leu1080del |