This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
gnomAD v4:
Joint Max Group AF
0.00000919 (EAS)
Exomes Max Group AF
0.00001019 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127825635_127825636insT , CM000671.2:g.127825635_127825636insT | GRCh38 |
| NC_000009.11:g.130587914_130587915insT , CM000671.1:g.130587914_130587915insT | GRCh37 |
| NC_000009.10:g.129627735_129627736insT | NCBI36 |
| NG_009551.1:g.34133_34134insA , LRG_589:g.34133_34134insA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.143+59_143+60insA | ENSP00000479015.1:n.143+59_143+60insA | |
| ENST00000373203.9:c.689+59_689+60insA MANE Select | ENSP00000362299.4:n.689+59_689+60insA | |
| ENST00000344849.4:c.689+59_689+60insA | ENSP00000341917.3:n.689+59_689+60insA | |
| ENST00000373203.8:c.689+59_689+60insA | ENSP00000362299.4:n.689+59_689+60insA | |
| ENST00000480266.5:c.143+59_143+60insA | ENSP00000479015.1:n.143+59_143+60insA | |
| NM_000118.3:c.689+59_689+60insA , LRG_589t1:c.689+59_689+60insA | NP_000109.1:n.689+59_689+60insA | |
| NM_001114753.2:c.689+59_689+60insA , LRG_589t2:c.689+59_689+60insA | NP_001108225.1:n.689+59_689+60insA | |
| NM_001278138.1:c.143+59_143+60insA | NP_001265067.1:n.143+59_143+60insA | |
| XR_001746952.2:n.82+177_82+178insT | ||
| NM_001114753.3:c.689+59_689+60insA MANE Select | NP_001108225.1:n.689+59_689+60insA | |
| NM_001278138.2:c.143+59_143+60insA | NP_001265067.1:n.143+59_143+60insA |