gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006632 (AMR)
Exomes Max Group AF
0.00007305 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.97691678_97691679insG , CM000663.2:g.97691678_97691679insG | GRCh38 |
| NC_000001.10:g.98157234_98157235insG , CM000663.1:g.98157234_98157235insG | GRCh37 |
| NC_000001.9:g.97929822_97929823insG | NCBI36 |
| NG_008807.2:g.234381_234382insC , LRG_722:g.234381_234382insC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370192.8:c.762+38_762+39insC MANE Select | ENSP00000359211.3:n.762+38_762+39insC | |
| ENST00000370192.7:c.762+38_762+39insC | ENSP00000359211.3:n.762+38_762+39insC | |
| ENST00000474241.1:n.564_565insC | ||
| NM_000110.3:c.762+38_762+39insC , LRG_722t1:c.762+38_762+39insC | NP_000101.2:n.762+38_762+39insC | |
| XM_005270562.3:c.762+38_762+39insC | XP_005270619.2:n.762+38_762+39insC | |
| XM_006710397.2:c.762+38_762+39insC | XP_006710460.1:n.762+38_762+39insC | |
| XM_006710397.3:c.762+38_762+39insC | XP_006710460.1:n.762+38_762+39insC | |
| XM_017000507.1:c.651+38_651+39insC | XP_016855996.1:n.651+38_651+39insC | |
| XM_017000508.2:c.267+38_267+39insC | XP_016855997.1:n.267+38_267+39insC | |
| XM_017000509.2:c.267+38_267+39insC | XP_016855998.1:n.267+38_267+39insC | |
| XM_017000510.1:c.267+38_267+39insC | XP_016855999.1:n.267+38_267+39insC | |
| NM_000110.4:c.762+38_762+39insC MANE Select | NP_000101.2:n.762+38_762+39insC |