Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431395_23431411del , CM000676.2:g.23431395_23431411del | GRCh38 |
| NC_000014.8:g.23900604_23900620del , CM000676.1:g.23900604_23900620del | GRCh37 |
| NC_000014.7:g.22970444_22970460del | NCBI36 |
| NG_007884.1:g.9251_9267del , LRG_384:g.9251_9267del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.796+7_796+23del MANE Select | ENSP00000347507.3:n.796+7_796+23del | |
| ENST00000355349.3:c.796+7_796+23del | ENSP00000347507.3:n.796+7_796+23del | |
| NM_000257.3:c.796+7_796+23del | NP_000248.2:n.796+7_796+23del | |
| XR_245686.3:n.902+7_902+23del | ||
| XM_017021340.1:c.796+7_796+23del | XP_016876829.1:n.796+7_796+23del | |
| NM_000257.4:c.796+7_796+23del MANE Select | NP_000248.2:n.796+7_796+23del |