Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728279_215728281dup , CM000663.2:g.215728279_215728281dup | GRCh38 |
| NC_000001.10:g.215901621_215901623dup , CM000663.1:g.215901621_215901623dup | GRCh37 |
| NC_000001.9:g.213968244_213968246dup | NCBI36 |
| NG_009497.1:g.700116_700118dup | |
| NG_009497.2:g.700168_700170dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11815_11817dup MANE Select | ENSP00000305941.3:p.Glu3939_Tyr3940insGlu | |
| ENST00000674083.1:c.11815_11817dup | ENSP00000501296.1:p.Glu3939_Tyr3940insGlu | |
| ENST00000307340.7:c.11815_11817dup | ENSP00000305941.3:p.Glu3939_Tyr3940insGlu | |
| NM_206933.2:c.11815_11817dup | NP_996816.2:p.Glu3939_Tyr3940insGlu | |
| NM_206933.3:c.11815_11817dup | NP_996816.2:p.Glu3939_Tyr3940insGlu | |
| NM_206933.4:c.11815_11817dup MANE Select | NP_996816.3:p.Glu3939_Tyr3940insGlu |