gnomAD v2:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.96144935_96144937dup , CM000670.2:g.96144935_96144937dup | GRCh38 |
| NC_000008.10:g.97157163_97157165dup , CM000670.1:g.97157163_97157165dup | GRCh37 |
| NC_000008.9:g.97226339_97226341dup | NCBI36 |
| NG_008981.1:g.20864_20866dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000287020.7:c.1002_1004dup MANE Select | ENSP00000287020.4:p.Arg335_Thr336insArg | |
| ENST00000287020.6:c.1002_1004dup | ENSP00000287020.4:p.Arg335_Thr336insArg | |
| ENST00000620978.1:c.793+147_793+149dup | ENSP00000480170.1:n.793+147_793+149dup | |
| ENST00000621429.1:c.875-124_875-122dup | ENSP00000483711.1:n.875-124_875-122dup | |
| NM_001001557.2:c.1002_1004dup | NP_001001557.1:p.Arg335_Thr336insArg | |
| XM_011517030.1:c.603_605dup | XP_011515332.1:p.Arg202_Thr203insArg | |
| NM_001001557.3:c.1002_1004dup | NP_001001557.1:p.Arg335_Thr336insArg | |
| NM_001001557.4:c.1002_1004dup MANE Select | NP_001001557.1:p.Arg335_Thr336insArg |