Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424798_23424800del , CM000676.2:g.23424798_23424800del | GRCh38 |
| NC_000014.8:g.23894007_23894009del , CM000676.1:g.23894007_23894009del | GRCh37 |
| NC_000014.7:g.22963847_22963849del | NCBI36 |
| NG_007884.1:g.15866_15868del , LRG_384:g.15866_15868del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.2652_2654del MANE Select | ENSP00000347507.3:p.Lys884del | |
| ENST00000355349.3:c.2652_2654del | ENSP00000347507.3:p.Lys884del | |
| NM_000257.3:c.2652_2654del | NP_000248.2:p.Lys884del | |
| XR_245686.3:n.2758_2760del | ||
| XM_017021340.1:c.2652_2654del | XP_016876829.1:p.Lys884del | |
| NM_000257.4:c.2652_2654del MANE Select | NP_000248.2:p.Lys884del |