Linked Data
dbSNP Id:
rs758324342
ExAC:
4:187126317 ACT / A
gnomAD v2:
4-187126317-ACT-A
gnomAD v3:
4-186205163-ACT-A
gnomAD v4:
4-186205163-ACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186205166_186205167del , CM000666.2:g.186205166_186205167del | GRCh38 |
| NC_000004.11:g.187126320_187126321del , CM000666.1:g.187126320_187126321del | GRCh37 |
| NC_000004.10:g.187363314_187363315del | NCBI36 |
| NG_007965.1:g.18647_18648del | |
| NG_012095.2:g.1188_1189del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378802.5:c.988-34_988-33del MANE Select | ENSP00000368079.4:n.988-34_988-33del | |
| ENST00000378802.4:c.988-34_988-33del | ENSP00000368079.4:n.988-34_988-33del | |
| ENST00000502665.1:n.223-34_223-33del | ||
| ENST00000507209.5:n.5652_5653del | ||
| ENST00000513354.5:n.78-34_78-33del | ||
| NM_207352.3:c.988-34_988-33del | NP_997235.3:n.988-34_988-33del | |
| XM_005262935.2:c.988-34_988-33del | XP_005262992.1:n.988-34_988-33del | |
| XM_006714184.2:c.592-34_592-33del | XP_006714247.1:n.592-34_592-33del | |
| XM_005262935.4:c.988-34_988-33del | XP_005262992.1:n.988-34_988-33del | |
| XM_017008037.1:c.592-34_592-33del | XP_016863526.1:n.592-34_592-33del | |
| NM_207352.4:c.988-34_988-33del MANE Select | NP_997235.3:n.988-34_988-33del |