MyVariant.info:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00091437 (AFR)
Genomes Max Group AF
0.00083157 (AFR)
Exomes Max Group AF
0.00085002 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158681597_158681599dup , CM000663.2:g.158681597_158681599dup | GRCh38 |
| NC_000001.10:g.158651387_158651389dup , CM000663.1:g.158651387_158651389dup | GRCh37 |
| NC_000001.9:g.156918011_156918013dup | NCBI36 |
| NG_011474.1:g.10119_10121dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.460_462dup MANE Select | ENSP00000495214.1:p.Leu154_Leu155insLeu | |
| ENST00000368147.8:c.460_462dup | ENSP00000357129.4:p.Leu154_Leu155insLeu | |
| ENST00000467387.1:c.133-3064_133-3062dup | ENSP00000476485.1:n.133-3064_133-3062dup | |
| ENST00000614909.4:c.460_462dup | ENSP00000482595.1:p.Leu154_Leu155insLeu | |
| NM_003126.2:c.460_462dup | NP_003117.2:p.Leu154_Leu155insLeu | |
| XM_011509916.1:c.460_462dup | XP_011508218.1:p.Leu154_Leu155insLeu | |
| XM_011509917.1:c.460_462dup | XP_011508219.1:p.Leu154_Leu155insLeu | |
| XM_011509918.1:c.460_462dup | XP_011508220.1:p.Leu154_Leu155insLeu | |
| XM_011509919.1:c.460_462dup | XP_011508221.1:p.Leu154_Leu155insLeu | |
| XR_921911.1:n.573_575dup | ||
| XR_921912.1:n.578_580dup | ||
| NM_003126.3:c.460_462dup | NP_003117.2:p.Leu154_Leu155insLeu | |
| XM_011509916.2:c.460_462dup | XP_011508218.1:p.Leu154_Leu155insLeu | |
| XM_011509917.3:c.460_462dup | XP_011508219.1:p.Leu154_Leu155insLeu | |
| XM_011509918.3:c.460_462dup | XP_011508220.1:p.Leu154_Leu155insLeu | |
| XM_011509919.3:c.460_462dup | XP_011508221.1:p.Leu154_Leu155insLeu | |
| XR_921911.3:n.586_588dup | ||
| XR_921912.2:n.588_590dup | ||
| NM_003126.4:c.460_462dup MANE Select | NP_003117.2:p.Leu154_Leu155insLeu |