ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2166078_2166084dup , CM000673.2:g.2166078_2166084dup | GRCh38 |
| NC_000011.9:g.2187308_2187314dup , CM000673.1:g.2187308_2187314dup | GRCh37 |
| NC_000011.8:g.2143884_2143890dup | NCBI36 |
| NG_007114.1:g.117_123dup | |
| NG_008128.1:g.10728_10734dup | |
| NG_050578.1:g.132_138dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352909.8:c.1048-20_1048-14dup MANE Select | ENSP00000325951.4:n.1048-20_1048-14dup | |
| ENST00000324155.8:c.*737-20_*737-14dup | ENSP00000325831.3:n.*737-20_*737-14dup | |
| ENST00000333684.9:c.766-20_766-14dup | ENSP00000328814.6:n.766-20_766-14dup | |
| ENST00000352909.7:c.1048-20_1048-14dup | ENSP00000325951.3:n.1048-20_1048-14dup | |
| ENST00000381168.7:c.*768-20_*768-14dup | ENSP00000370560.3:n.*768-20_*768-14dup | |
| ENST00000381175.5:c.1129-20_1129-14dup | ENSP00000370567.1:n.1129-20_1129-14dup | |
| ENST00000381178.5:c.1141-20_1141-14dup | ENSP00000370571.1:n.1141-20_1141-14dup | |
| ENST00000412076.1:c.206-20_206-14dup | ||
| ENST00000416223.5:c.342-20_342-14dup | ||
| ENST00000461172.1:n.614_620dup | ||
| ENST00000479437.5:n.597-20_597-14dup | ||
| NM_000360.3:c.1048-20_1048-14dup | NP_000351.2:n.1048-20_1048-14dup | |
| NM_199292.2:c.1141-20_1141-14dup | NP_954986.2:n.1141-20_1141-14dup | |
| NM_199293.2:c.1129-20_1129-14dup | NP_954987.2:n.1129-20_1129-14dup | |
| XM_011520335.1:c.1060-20_1060-14dup | XP_011518637.1:n.1060-20_1060-14dup | |
| XM_011520335.2:c.1060-20_1060-14dup | XP_011518637.1:n.1060-20_1060-14dup | |
| NM_000360.4:c.1048-20_1048-14dup MANE Select | NP_000351.2:n.1048-20_1048-14dup | |
| NM_199292.3:c.1141-20_1141-14dup | NP_954986.2:n.1141-20_1141-14dup | |
| NM_199293.3:c.1129-20_1129-14dup | NP_954987.2:n.1129-20_1129-14dup |