MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00027656 (EAS)
Genomes Max Group AF
0.0000683 (EAS)
Exomes Max Group AF
0.00027262 (EAS)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980613_149980615del , CM000667.2:g.149980613_149980615del | GRCh38 |
| NC_000005.9:g.149360176_149360178del , CM000667.1:g.149360176_149360178del | GRCh37 |
| NC_000005.8:g.149340369_149340371del | NCBI36 |
| NG_007147.2:g.21731_21733del , LRG_684:g.21731_21733del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1020_1022del MANE Select | ENSP00000286298.4:p.Val341del | |
| ENST00000286298.4:c.1020_1022del | ENSP00000286298.4:p.Val341del | |
| ENST00000503336.1:c.372+2262_372+2264del | ENSP00000426053.1:n.372+2262_372+2264del | |
| NM_000112.3:c.1020_1022del , LRG_684t1:c.1020_1022del | NP_000103.2:p.Val341del | |
| XM_017009191.2:c.1020_1022del | XP_016864680.1:p.Val341del | |
| NM_000112.4:c.1020_1022del MANE Select | NP_000103.2:p.Val341del |