Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23431391_23431394del , CM000676.2:g.23431391_23431394del | GRCh38 |
| NC_000014.8:g.23900600_23900603del , CM000676.1:g.23900600_23900603del | GRCh37 |
| NC_000014.7:g.22970440_22970443del | NCBI36 |
| NG_007884.1:g.9268_9271del , LRG_384:g.9268_9271del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.796+24_796+27del MANE Select | ENSP00000347507.3:n.796+24_796+27del | |
| ENST00000355349.3:c.796+24_796+27del | ENSP00000347507.3:n.796+24_796+27del | |
| NM_000257.3:c.796+24_796+27del | NP_000248.2:n.796+24_796+27del | |
| XR_245686.3:n.902+24_902+27del | ||
| XM_017021340.1:c.796+24_796+27del | XP_016876829.1:n.796+24_796+27del | |
| NM_000257.4:c.796+24_796+27del MANE Select | NP_000248.2:n.796+24_796+27del |