Linked Data
gnomAD v2:
5-44359665-T-TATTA
gnomAD v3:
5-44359563-T-TATTA
gnomAD v4:
5-44359563-T-TATTA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.44359563_44359564insATTA , CM000667.2:g.44359563_44359564insATTA | GRCh38 |
| NC_000005.9:g.44359665_44359666insATTA , CM000667.1:g.44359665_44359666insATTA | GRCh37 |
| NC_000005.8:g.44395422_44395423insATTA | NCBI36 |
| NG_011446.1:g.34119_34120insTAAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264664.5:c.325+28794_325+28795insTAAT MANE Select | ENSP00000264664.4:n.325+28794_325+28795insTAAT | |
| ENST00000264664.4:c.325+28794_325+28795insTAAT | ENSP00000264664.4:n.325+28794_325+28795insTAAT | |
| NM_004465.1:c.325+28794_325+28795insTAAT | NP_004456.1:n.325+28794_325+28795insTAAT | |
| XM_005248264.2:c.325+28794_325+28795insTAAT | XP_005248321.1:n.325+28794_325+28795insTAAT | |
| XM_005248264.4:c.325+28794_325+28795insTAAT | XP_005248321.1:n.325+28794_325+28795insTAAT | |
| NM_004465.2:c.325+28794_325+28795insTAAT MANE Select | NP_004456.1:n.325+28794_325+28795insTAAT |