Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154904988_154904990dup , CM000685.2:g.154904988_154904990dup | GRCh38 |
| NC_000023.10:g.154133263_154133265dup , CM000685.1:g.154133263_154133265dup | GRCh37 |
| NC_000023.9:g.153786457_153786459dup | NCBI36 |
| NG_011403.1:g.122735_122737dup | |
| NG_011403.2:g.122735_122737dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360256.9:c.5408_5410dup MANE Select | ENSP00000353393.4:p.Ser1803_Phe1804insSer | |
| ENST00000360256.8:c.5408_5410dup | ENSP00000353393.4:p.Ser1803_Phe1804insSer | |
| NM_000132.3:c.5408_5410dup | NP_000123.1:p.Ser1803_Phe1804insSer | |
| XM_011531126.1:c.5303_5305dup | XP_011529428.1:p.Ser1768_Phe1769insSer | |
| NM_000132.4:c.5408_5410dup MANE Select | NP_000123.1:p.Ser1803_Phe1804insSer |