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:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843575_102843582dup , CM000674.2:g.102843575_102843582dup | GRCh38 |
| NC_000012.11:g.103237353_103237360dup , CM000674.1:g.103237353_103237360dup | GRCh37 |
| NC_000012.10:g.101761483_101761490dup | NCBI36 |
| NG_008690.1:g.79024_79031dup | |
| NG_008690.2:g.119832_119839dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1199+67_1199+74dup MANE Select | ENSP00000448059.1:n.1199+67_1199+74dup | |
| ENST00000307000.7:c.1184+67_1184+74dup | ENSP00000303500.2:n.1184+67_1184+74dup | |
| ENST00000549247.6:n.958+67_958+74dup | ||
| ENST00000551114.2:n.861+67_861+74dup | ||
| ENST00000553106.5:c.1199+67_1199+74dup | ENSP00000448059.1:n.1199+67_1199+74dup | |
| ENST00000635477.1:c.303+67_303+74dup | ||
| ENST00000635528.1:n.714+67_714+74dup | ||
| NM_000277.1:c.1199+67_1199+74dup | NP_000268.1:n.1199+67_1199+74dup | |
| XM_011538422.1:c.1142+67_1142+74dup | XP_011536724.1:n.1142+67_1142+74dup | |
| NM_000277.2:c.1199+67_1199+74dup | NP_000268.1:n.1199+67_1199+74dup | |
| NM_001354304.1:c.1199+67_1199+74dup | NP_001341233.1:n.1199+67_1199+74dup | |
| NM_000277.3:c.1199+67_1199+74dup MANE Select | NP_000268.1:n.1199+67_1199+74dup | |
| NM_001354304.2:c.1199+67_1199+74dup | NP_001341233.1:n.1199+67_1199+74dup |