Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154071_55154100del , CM000681.2:g.55154071_55154100del | GRCh38 |
| NC_000019.9:g.55665439_55665468del , CM000681.1:g.55665439_55665468del | GRCh37 |
| NC_000019.8:g.60357251_60357280del | NCBI36 |
| NG_007866.2:g.8639_8668del , LRG_432:g.8639_8668del | |
| NG_011829.2:g.145_174del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.485_514del MANE Select | ENSP00000341838.5:p.Arg162_Ala171del | |
| ENST00000665070.1:c.518_547del | ENSP00000499482.1:p.Arg173_Ala182del | |
| ENST00000344887.9:c.485_514del | ENSP00000341838.5:p.Arg162_Ala171del | |
| ENST00000585806.5:n.484_513del | ||
| ENST00000588882.1:c.410_439del | ENSP00000466729.1:p.Arg137_Ala146del | |
| ENST00000589864.1:n.313_342del | ||
| NM_000363.4:c.485_514del , LRG_432t1:c.485_514del | NP_000354.4:p.Arg162_Ala171del | |
| NM_000363.5:c.485_514del MANE Select | NP_000354.4:p.Arg162_Ala171del |