Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215671080_215671094del , CM000663.2:g.215671080_215671094del | GRCh38 |
| NC_000001.10:g.215844422_215844436del , CM000663.1:g.215844422_215844436del | GRCh37 |
| NC_000001.9:g.213911045_213911059del | NCBI36 |
| NG_009497.1:g.757303_757317del | |
| NG_009497.2:g.757355_757369del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.14011_14025del MANE Select | ENSP00000305941.3:p.Glu4671_Arg4675del | |
| ENST00000674083.1:c.14011_14025del | ENSP00000501296.1:p.Glu4671_Arg4675del | |
| ENST00000307340.7:c.14011_14025del | ENSP00000305941.3:p.Glu4671_Arg4675del | |
| NM_206933.2:c.14011_14025del | NP_996816.2:p.Glu4671_Arg4675del | |
| NM_206933.3:c.14011_14025del | NP_996816.2:p.Glu4671_Arg4675del | |
| NM_206933.4:c.14011_14025del MANE Select | NP_996816.3:p.Glu4671_Arg4675del |