gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00021959 (AFR)
Genomes Max Group AF
0.00024071 (AFR)
Exomes Max Group AF
0.00021109 (SAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.232543030_232543031del , CM000664.2:g.232543030_232543031del | GRCh38 |
| NC_000002.11:g.233407740_233407741del , CM000664.1:g.233407740_233407741del | GRCh37 |
| NC_000002.10:g.233115984_233115985del | NCBI36 |
| NG_012954.1:g.8304_8305del | |
| NG_012954.2:g.8339_8340del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651502.1:c.753_754del MANE Select | ENSP00000498757.1:p.Val253AlafsTer? | |
| ENST00000389492.3:c.597_598del | ENSP00000374143.3:p.Val201AlafsTer? | |
| ENST00000389494.7:c.753_754del | ENSP00000374145.3:p.Val253AlafsTer? | |
| NM_005199.4:c.753_754del | NP_005190.4:p.Val253AlafsTer? | |
| NM_005199.5:c.753_754del MANE Select | NP_005190.4:p.Val253AlafsTer? |