This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.078354 (SAS)
Genomes Max Group AF
0.07925102 (SAS)
Exomes Max Group AF
0.07797181 (SAS)
MyVariant.info:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.89932551dup , CM000678.2:g.89932551dup | GRCh38 |
| NC_000016.9:g.89998959dup , CM000678.1:g.89998959dup | GRCh37 |
| NC_000016.8:g.88526460dup | NCBI36 |
| NG_027810.1:g.15543dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000315491.12:c.58-20dup MANE Select | ENSP00000320295.7:n.58-20dup | |
| ENST00000680647.1:n.2287dup | ||
| ENST00000680788.1:n.3459dup | ||
| ENST00000315491.11:c.58-20dup | ENSP00000320295.7:n.58-20dup | |
| ENST00000553656.5:c.*41-20dup | ENSP00000452001.1:n.*41-20dup | |
| ENST00000553967.1:c.58-20dup | ENSP00000450765.1:n.58-20dup | |
| ENST00000554336.5:c.58-20dup | ENSP00000450822.1:n.58-20dup | |
| ENST00000554444.5:c.-159-20dup | ENSP00000451617.1:n.-159-20dup | |
| ENST00000554927.1:n.115-20dup | ||
| ENST00000555576.5:c.58-20dup | ENSP00000452554.1:n.58-20dup | |
| ENST00000555609.5:c.58-20dup | ENSP00000451276.1:n.58-20dup | |
| ENST00000555810.5:c.-159-20dup | ENSP00000450538.1:n.-159-20dup | |
| ENST00000556536.5:c.58-20dup | ENSP00000451378.1:n.58-20dup | |
| ENST00000556565.5:c.-159-20dup | ENSP00000452166.1:n.-159-20dup | |
| ENST00000556922.1:c.1099-20dup | ENSP00000451560.1:n.1099-20dup | |
| ENST00000557262.5:c.*41-20dup | ENSP00000451985.1:n.*41-20dup | |
| ENST00000557490.5:c.58-20dup | ENSP00000451465.1:n.58-20dup | |
| ENST00000625617.2:c.58-20dup | ENSP00000485859.1:n.58-20dup | |
| NM_001197181.1:c.-159-20dup | NP_001184110.1:n.-159-20dup | |
| NM_006086.3:c.58-20dup | NP_006077.2:n.58-20dup | |
| NM_006086.4:c.58-20dup MANE Select | NP_006077.2:n.58-20dup | |
| NM_001197181.2:c.-159-20dup | NP_001184110.1:n.-159-20dup |