gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005433 (AMR)
Exomes Max Group AF
0.00007281 (AMR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16165821_16165823del , CM000678.2:g.16165821_16165823del | GRCh38 |
| NC_000016.9:g.16259678_16259680del , CM000678.1:g.16259678_16259680del | GRCh37 |
| NC_000016.8:g.16167179_16167181del | NCBI36 |
| NG_007558.2:g.62649_62651del | |
| NG_007558.3:g.62795_62797del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3106_3108del | ENSP00000483331.2:p.Phe1036del | |
| ENST00000205557.12:c.3106_3108del MANE Select | ENSP00000205557.7:p.Phe1036del | |
| ENST00000640696.1:c.121_123del | ENSP00000492197.1:p.Phe41del | |
| ENST00000205557.11:c.3106_3108del | ENSP00000205557.7:p.Phe1036del | |
| ENST00000456970.6:c.2931_2933del | ENSP00000405002.2:n.2931_2933del | |
| ENST00000622290.4:c.*315_*317del | ENSP00000483331.1:n.*315_*317del | |
| NM_001171.5:c.3106_3108del | NP_001162.4:p.Phe1036del | |
| XM_011522479.1:c.3073_3075del | XP_011520781.1:p.Phe1025del | |
| XM_011522480.1:c.2764_2766del | XP_011520782.1:p.Phe922del | |
| XM_011522481.1:c.2764_2766del | XP_011520783.1:p.Phe922del | |
| XR_932836.1:n.3341_3343del | ||
| XR_932837.1:n.3342_3344del | ||
| XR_932838.1:n.3342_3344del | ||
| NM_001351800.1:c.2764_2766del | NP_001338729.1:p.Phe922del | |
| NR_147784.1:n.2968_2970del | ||
| XM_011522479.2:c.3073_3075del | XP_011520781.1:p.Phe1025del | |
| XM_011522481.3:c.2764_2766del | XP_011520783.1:p.Phe922del | |
| XM_017023212.1:c.2938_2940del | XP_016878701.1:p.Phe980del | |
| XM_017023214.1:c.3106_3108del | XP_016878703.1:p.Phe1036del | |
| XM_024450261.1:c.3142_3144del | XP_024306029.1:p.Phe1048del | |
| XR_932836.2:n.3287_3289del | ||
| XR_932837.3:n.3287_3289del | ||
| XR_932838.3:n.3287_3289del | ||
| NM_001171.6:c.3106_3108del MANE Select | NP_001162.5:p.Phe1036del |