Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.50470088_50470093dup , CM000685.2:g.50470088_50470093dup | GRCh38 |
| NC_000023.10:g.50213087_50213092dup , CM000685.1:g.50213087_50213092dup | GRCh37 |
| NC_000023.9:g.50229827_50229832dup | NCBI36 |
| NG_033143.2:g.5653_5658dup |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001013742.4:c.609_614dup MANE Select | NP_001013764.1:p.Pro205_Arg206insSerPro |
| ENST00000611977.2:c.609_614dup MANE Select | ENSP00000477515.1:p.Pro205_Arg206insSerPro |
| NM_001013742.3:c.609_614dup | NP_001013764.1:p.Pro205_Arg206insSerPro |
| ENST00000611977.1:c.609_614dup | ENSP00000477515.1:p.Pro205_Arg206insSerPro |
| XM_017029268.2:c.609_614dup | XP_016884757.1:p.Pro205_Arg206insSerPro |