Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728232_215728234dup , CM000663.2:g.215728232_215728234dup | GRCh38 |
| NC_000001.10:g.215901574_215901576dup , CM000663.1:g.215901574_215901576dup | GRCh37 |
| NC_000001.9:g.213968197_213968199dup | NCBI36 |
| NG_009497.1:g.700165_700167dup | |
| NG_009497.2:g.700217_700219dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11864_11866dup MANE Select | ENSP00000305941.3:p.Trp3955_Ser3956insTrp | |
| ENST00000674083.1:c.11864_11866dup | ENSP00000501296.1:p.Trp3955_Ser3956insTrp | |
| ENST00000307340.7:c.11864_11866dup | ENSP00000305941.3:p.Trp3955_Ser3956insTrp | |
| NM_206933.2:c.11864_11866dup | NP_996816.2:p.Trp3955_Ser3956insTrp | |
| NM_206933.3:c.11864_11866dup | NP_996816.2:p.Trp3955_Ser3956insTrp | |
| NM_206933.4:c.11864_11866dup MANE Select | NP_996816.3:p.Trp3955_Ser3956insTrp |