gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001336 (NFE)
Exomes Max Group AF
0.0000142 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.87614808_87614810del , CM000666.2:g.87614808_87614810del | GRCh38 |
| NC_000004.11:g.88535960_88535962del , CM000666.1:g.88535960_88535962del | GRCh37 |
| NC_000004.10:g.88754984_88754986del | NCBI36 |
| NG_011595.1:g.11280_11282del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651931.1:c.2146_2148del MANE Select | ENSP00000498766.1:p.Ser716del | |
| ENST00000282478.7:c.2146_2148del | ENSP00000282478.7:p.Ser716del | |
| ENST00000399271.5:c.2146_2148del | ENSP00000382213.1:p.Ser716del | |
| NM_014208.3:c.2146_2148del MANE Select | NP_055023.2:p.Ser716del |