gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000553 (AMR)
Exomes Max Group AF
8.4e-7 (NFE)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.20189248_20189249del , CM000675.2:g.20189248_20189249del | GRCh38 |
| NC_000013.10:g.20763387_20763388del , CM000675.1:g.20763387_20763388del | GRCh37 |
| NC_000013.9:g.19661387_19661388del | NCBI36 |
| NG_008358.1:g.8728_8729del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382844.2:c.334_335del | ENSP00000372295.1:p.Lys112GlufsTer2 | |
| ENST00000382848.5:c.334_335del MANE Select | ENSP00000372299.4:p.Lys112GlufsTer2 | |
| ENST00000382844.1:c.334_335del | ENSP00000372295.1:p.Lys112GlufsTer2 | |
| ENST00000382848.4:c.334_335del | ENSP00000372299.4:p.Lys112GlufsTer2 | |
| NM_004004.5:c.334_335del | NP_003995.2:p.Lys112GlufsTer2 | |
| XM_011535049.1:c.334_335del | XP_011533351.1:p.Lys112GlufsTer2 | |
| XM_011535049.2:c.334_335del | XP_011533351.1:p.Lys112GlufsTer2 | |
| NM_004004.6:c.334_335del MANE Select | NP_003995.2:p.Lys112GlufsTer2 |