INTERRUPTION NOTICE:2025-11-04T19:00:00-0500 — 2025-11-14T08:00:00-0500
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
We are currently experiencing disruptions with our internal data streaming service which are affecting data exchange across multiple applications causing delay in real-time message broadcasting and notifications.
This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580237_38580238del , CM000681.2:g.38580237_38580238del | GRCh38 |
| NC_000019.9:g.39070877_39070878del , CM000681.1:g.39070877_39070878del | GRCh37 |
| NC_000019.8:g.43762717_43762718del | NCBI36 |
| NG_008866.1:g.151538_151539del , LRG_766:g.151538_151539del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000540.3:c.14511+109_14511+110del MANE Select | NP_000531.2:n.14511+109_14511+110del |
| ENST00000359596.8:c.14511+109_14511+110del MANE Select | ENSP00000352608.2:n.14511+109_14511+110del |
| NM_000540.2:c.14511+109_14511+110del , LRG_766t1:c.14511+109_14511+110del | NP_000531.2:n.14511+109_14511+110del |
| NM_001042723.1:c.14496+109_14496+110del | NP_001036188.1:n.14496+109_14496+110del |
| NM_001042723.2:c.14496+109_14496+110del | NP_001036188.1:n.14496+109_14496+110del |
| ENST00000355481.8:c.14496+109_14496+110del | ENSP00000347667.3:n.14496+109_14496+110del |
| ENST00000359596.7:c.14511+109_14511+110del | ENSP00000352608.2:n.14511+109_14511+110del |
| ENST00000360985.7:c.14493+109_14493+110del | ENSP00000354254.4:n.14493+109_14493+110del |
| ENST00000593677.2:c.1447+109_1447+110del | |
| ENST00000688602.1:c.2844+109_2844+110del | |
| ENST00000689936.1:c.2816+109_2816+110del | |
| XM_006723317.1:c.14493+109_14493+110del | XP_006723380.1:n.14493+109_14493+110del |
| XM_006723317.2:c.14493+109_14493+110del | XP_006723380.1:n.14493+109_14493+110del |
| XM_006723319.1:c.14478+109_14478+110del | XP_006723382.1:n.14478+109_14478+110del |
| XM_006723319.2:c.14478+109_14478+110del | XP_006723382.1:n.14478+109_14478+110del |
| XM_011527204.1:c.14508+109_14508+110del | XP_011525506.1:n.14508+109_14508+110del |
| XM_011527205.1:c.14424+109_14424+110del | XP_011525507.1:n.14424+109_14424+110del |
| XM_011527205.2:c.14424+109_14424+110del | XP_011525507.1:n.14424+109_14424+110del |