gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.68862709 (EAS)
Genomes Max Group AF
0.68862709 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.83323741_83323742insCCT , CM000667.2:g.83323741_83323742insCCT | GRCh38 |
| NC_000005.9:g.82619560_82619561insCCT , CM000667.1:g.82619560_82619561insCCT | GRCh37 |
| NC_000005.8:g.82655316_82655317insCCT | NCBI36 |
| NG_047086.1:g.251333_251334insCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396027.9:c.894-29390_894-29389insCCT MANE Select | ENSP00000379344.4:n.894-29390_894-29389insCCT | |
| ENST00000282268.7:c.894-29390_894-29389insCCT | ENSP00000282268.3:n.894-29390_894-29389insCCT | |
| ENST00000338635.10:c.894-29384_894-29383insCCT | ENSP00000342011.6:n.894-29384_894-29383insCCT | |
| ENST00000396027.8:c.894-29390_894-29389insCCT | ENSP00000379344.4:n.894-29390_894-29389insCCT | |
| ENST00000511817.1:c.894-29384_894-29383insCCT | ENSP00000421491.1:n.894-29384_894-29383insCCT | |
| NM_003401.3:c.894-29390_894-29389insCCT | NP_003392.1:n.894-29390_894-29389insCCT | |
| NM_022406.2:c.894-29384_894-29383insCCT | NP_071801.1:n.894-29384_894-29383insCCT | |
| NM_022550.2:c.894-29390_894-29389insCCT | NP_072044.1:n.894-29390_894-29389insCCT | |
| XM_005248595.1:c.894-29384_894-29383insCCT | XP_005248652.1:n.894-29384_894-29383insCCT | |
| XM_011543626.1:c.894-29384_894-29383insCCT | XP_011541928.1:n.894-29384_894-29383insCCT | |
| XM_011543629.1:c.234-29384_234-29383insCCT | XP_011541931.1:n.234-29384_234-29383insCCT | |
| NM_001318012.1:c.894-29384_894-29383insCCT | NP_001304941.1:n.894-29384_894-29383insCCT | |
| NM_003401.4:c.894-29390_894-29389insCCT | NP_003392.1:n.894-29390_894-29389insCCT | |
| NM_022406.3:c.894-29384_894-29383insCCT | NP_071801.1:n.894-29384_894-29383insCCT | |
| NM_022550.3:c.894-29390_894-29389insCCT | NP_072044.1:n.894-29390_894-29389insCCT | |
| XM_017009827.2:c.894-46526_894-46525insCCT | XP_016865316.1:n.894-46526_894-46525insCCT | |
| NM_001318012.2:c.894-29384_894-29383insCCT | NP_001304941.1:n.894-29384_894-29383insCCT | |
| NM_003401.5:c.894-29390_894-29389insCCT MANE Select | NP_003392.1:n.894-29390_894-29389insCCT | |
| NM_022406.4:c.894-29384_894-29383insCCT | NP_071801.1:n.894-29384_894-29383insCCT | |
| NM_001318012.3:c.894-29384_894-29383insCCT | NP_001304941.1:n.894-29384_894-29383insCCT | |
| NM_022406.5:c.894-29384_894-29383insCCT | NP_071801.1:n.894-29384_894-29383insCCT | |
| NM_022550.4:c.894-29390_894-29389insCCT | NP_072044.1:n.894-29390_894-29389insCCT |