Linked Data
dbSNP Id:
rs757167544
gnomAD v2:
9-4293054-A-AAAAC
gnomAD v3:
9-4293054-A-AAAAC
gnomAD v4:
9-4293054-A-AAAAC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.4293070_4293073dup , CM000671.2:g.4293070_4293073dup | GRCh38 |
| NC_000009.11:g.4293070_4293073dup , CM000671.1:g.4293070_4293073dup | GRCh37 |
| NC_000009.10:g.4283070_4283073dup | NCBI36 |
| NG_011782.1:g.11978_11981dup | |
| NG_011782.2:g.11978_11981dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000491889.6:c.-99+6363_-99+6366dup | ENSP00000419914.1:n.-99+6363_-99+6366dup | |
| ENST00000682749.1:c.-78+6363_-78+6366dup | ENSP00000507306.1:n.-78+6363_-78+6366dup | |
| ENST00000381971.8:c.-99+6363_-99+6366dup MANE Select | ENSP00000371398.3:n.-99+6363_-99+6366dup | |
| ENST00000381971.7:c.-99+6363_-99+6366dup | ENSP00000371398.3:n.-99+6363_-99+6366dup | |
| ENST00000465708.5:n.496+6363_496+6366dup | ||
| ENST00000471664.1:n.585-6535_585-6532dup | ||
| ENST00000477901.5:c.-99+6363_-99+6366dup | ENSP00000417794.1:n.-99+6363_-99+6366dup | |
| ENST00000478844.5:c.-78+5326_-78+5329dup | ENSP00000418005.1:n.-78+5326_-78+5329dup | |
| ENST00000481827.5:c.-99+5326_-99+5329dup | ENSP00000417883.1:n.-99+5326_-99+5329dup | |
| ENST00000490709.1:n.416+6363_416+6366dup | ||
| ENST00000491889.5:c.-99+6363_-99+6366dup | ENSP00000419914.1:n.-99+6363_-99+6366dup | |
| NM_001042413.1:c.-99+6363_-99+6366dup | NP_001035878.1:n.-99+6363_-99+6366dup | |
| XM_005251386.3:c.-78+6363_-78+6366dup | XP_005251443.1:n.-78+6363_-78+6366dup | |
| XM_005251387.3:c.-557+6363_-557+6366dup | XP_005251444.1:n.-557+6363_-557+6366dup | |
| XM_005251388.3:c.-71+6363_-71+6366dup | XP_005251445.1:n.-71+6363_-71+6366dup | |
| XM_005251389.3:c.-99+6363_-99+6366dup | XP_005251446.1:n.-99+6363_-99+6366dup | |
| XM_006716731.2:c.-99+6363_-99+6366dup | XP_006716794.1:n.-99+6363_-99+6366dup | |
| XM_011517763.1:c.-98-6535_-98-6532dup | XP_011516065.1:n.-98-6535_-98-6532dup | |
| XM_011517764.1:c.-99+5326_-99+5329dup | XP_011516066.1:n.-99+5326_-99+5329dup | |
| XM_011517765.1:c.-99+6363_-99+6366dup | XP_011516067.1:n.-99+6363_-99+6366dup | |
| XM_011517767.1:c.-557+5326_-557+5329dup | XP_011516069.1:n.-557+5326_-557+5329dup | |
| XM_011517768.1:c.-99+6363_-99+6366dup | XP_011516070.1:n.-99+6363_-99+6366dup | |
| XM_011517769.1:c.-99+6363_-99+6366dup | XP_011516071.1:n.-99+6363_-99+6366dup | |
| XR_929206.1:n.668+6363_668+6366dup | ||
| XM_005251386.4:c.-78+6363_-78+6366dup | XP_005251443.1:n.-78+6363_-78+6366dup | |
| XM_005251387.4:c.-557+6363_-557+6366dup | XP_005251444.1:n.-557+6363_-557+6366dup | |
| XM_005251388.4:c.-71+6363_-71+6366dup | XP_005251445.1:n.-71+6363_-71+6366dup | |
| XM_005251389.5:c.-99+6363_-99+6366dup | XP_005251446.1:n.-99+6363_-99+6366dup | |
| XM_006716731.3:c.-99+6363_-99+6366dup | XP_006716794.1:n.-99+6363_-99+6366dup | |
| XM_011517763.2:c.-98-6535_-98-6532dup | XP_011516065.1:n.-98-6535_-98-6532dup | |
| XM_011517764.2:c.-99+5326_-99+5329dup | XP_011516066.1:n.-99+5326_-99+5329dup | |
| XM_011517765.2:c.-99+6363_-99+6366dup | XP_011516067.1:n.-99+6363_-99+6366dup | |
| XM_011517767.3:c.-557+5326_-557+5329dup | XP_011516069.1:n.-557+5326_-557+5329dup | |
| XM_011517769.2:c.-99+6363_-99+6366dup | XP_011516071.1:n.-99+6363_-99+6366dup | |
| XR_929206.2:n.664+6363_664+6366dup | ||
| NM_001042413.2:c.-99+6363_-99+6366dup MANE Select | NP_001035878.1:n.-99+6363_-99+6366dup |