MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00066317 (SAS)
Genomes Max Group AF
0.00044371 (NFE)
Exomes Max Group AF
0.00068981 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101753472_101753473del , CM000674.2:g.101753472_101753473del | GRCh38 |
| NC_000012.11:g.102147250_102147251del , CM000674.1:g.102147250_102147251del | GRCh37 |
| NC_000012.10:g.100671381_100671382del | NCBI36 |
| NG_021243.1:g.82397_82398del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.3503_3504del MANE Select | ENSP00000299314.7:p.Leu1168GlnfsTer5 | |
| ENST00000299314.11:c.3503_3504del | ENSP00000299314.7:p.Leu1168GlnfsTer5 | |
| ENST00000549738.5:c.401_402del | ENSP00000450161.1:n.401_402del | |
| NM_024312.4:c.3503_3504del | NP_077288.2:p.Leu1168GlnfsTer5 | |
| XM_011538731.1:c.3422_3423del | XP_011537033.1:p.Leu1141GlnfsTer5 | |
| XM_011538731.2:c.3422_3423del | XP_011537033.1:p.Leu1141GlnfsTer5 | |
| XM_017019961.1:c.3287_3288del | XP_016875450.1:p.Leu1096GlnfsTer5 | |
| XM_017019962.2:c.2276_2277del | XP_016875451.1:p.Leu759GlnfsTer5 | |
| NM_024312.5:c.3503_3504del MANE Select | NP_077288.2:p.Leu1168GlnfsTer5 |