Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1232966_1232986dup , CM000663.2:g.1232966_1232986dup | GRCh38 |
| NC_000001.10:g.1168346_1168366dup , CM000663.1:g.1168346_1168366dup | GRCh37 |
| NC_000001.9:g.1158209_1158229dup | NCBI36 |
| NG_030007.1:g.4093_4113dup | |
| NG_033265.1:g.5718_5738dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379198.5:c.688_708dup MANE Select | ENSP00000368496.2:p.Arg236_Ala237insLeuSerArgAspTyrLeuArg | |
| ENST00000379198.3:c.688_708dup | ENSP00000368496.2:p.Arg236_Ala237insLeuSerArgAspTyrLeuArg | |
| NM_080605.3:c.688_708dup | NP_542172.2:p.Arg236_Ala237insLeuSerArgAspTyrLeuArg | |
| NM_080605.4:c.688_708dup MANE Select | NP_542172.2:p.Arg236_Ala237insLeuSerArgAspTyrLeuArg |