This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
gnomAD v3:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.25245056_25245057del , CM000674.2:g.25245056_25245057del | GRCh38 |
| NC_000012.11:g.25397990_25397991del , CM000674.1:g.25397990_25397991del | GRCh37 |
| NC_000012.10:g.25289257_25289258del | NCBI36 |
| NG_007524.1:g.10866_10867del | |
| NG_007524.2:g.10949_10950del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556131.2:c.111+219_111+220del | ENSP00000451856.1:n.111+219_111+220del | |
| ENST00000557334.6:c.111+219_111+220del | ENSP00000452512.1:n.111+219_111+220del | |
| ENST00000685328.1:c.111+219_111+220del | ENSP00000508921.1:n.111+219_111+220del | |
| ENST00000686877.1:c.111+219_111+220del | ENSP00000510431.1:n.111+219_111+220del | |
| ENST00000686969.1:c.111+219_111+220del | ENSP00000510479.1:n.111+219_111+220del | |
| ENST00000687356.1:c.111+219_111+220del | ENSP00000510511.1:n.111+219_111+220del | |
| ENST00000688940.1:c.111+219_111+220del | ENSP00000509238.1:n.111+219_111+220del | |
| ENST00000690804.1:c.111+219_111+220del | ENSP00000508568.1:n.111+219_111+220del | |
| ENST00000692768.1:c.-88+5696_-88+5697del | ENSP00000510254.1:n.-88+5696_-88+5697del | |
| ENST00000693229.1:c.111+219_111+220del | ENSP00000509223.1:n.111+219_111+220del | |
| ENST00000256078.10:c.111+219_111+220del MANE Plus Clinical | ENSP00000256078.5:n.111+219_111+220del | |
| ENST00000311936.8:c.111+219_111+220del MANE Select | ENSP00000308495.3:n.111+219_111+220del | |
| ENST00000256078.8:c.111+219_111+220del | ENSP00000256078.4:n.111+219_111+220del | |
| ENST00000311936.7:c.111+219_111+220del | ENSP00000308495.3:n.111+219_111+220del | |
| ENST00000556131.1:c.111+219_111+220del | ENSP00000451856.1:n.111+219_111+220del | |
| ENST00000557334.5:c.111+219_111+220del | ENSP00000452512.1:n.111+219_111+220del | |
| NM_004985.4:c.111+219_111+220del | NP_004976.2:n.111+219_111+220del | |
| NM_033360.3:c.111+219_111+220del | NP_203524.1:n.111+219_111+220del | |
| XM_006719069.2:c.111+219_111+220del | XP_006719132.1:n.111+219_111+220del | |
| XM_011520653.1:c.111+219_111+220del | XP_011518955.1:n.111+219_111+220del | |
| XM_006719069.4:c.111+219_111+220del | XP_006719132.1:n.111+219_111+220del | |
| XM_011520653.3:c.111+219_111+220del | XP_011518955.1:n.111+219_111+220del | |
| NM_001369786.1:c.111+219_111+220del | NP_001356715.1:n.111+219_111+220del | |
| NM_001369787.1:c.111+219_111+220del | NP_001356716.1:n.111+219_111+220del | |
| NM_004985.5:c.111+219_111+220del MANE Select | NP_004976.2:n.111+219_111+220del | |
| NM_033360.4:c.111+219_111+220del MANE Plus Clinical | NP_203524.1:n.111+219_111+220del |