gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00050587 (NFE)
Genomes Max Group AF
0.00026697 (NFE)
Exomes Max Group AF
0.00051433 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.13753290del , CM000667.2:g.13753290del | GRCh38 |
| NC_000005.9:g.13753399del , CM000667.1:g.13753399del | GRCh37 |
| NC_000005.8:g.13806399del | NCBI36 |
| NG_013081.1:g.196191del | |
| NG_013081.2:g.196191del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265104.5:c.10815del MANE Select | ENSP00000265104.4:p.Pro3606HisfsTer23 | |
| ENST00000681290.1:c.10770del | ENSP00000505288.1:p.Pro3591HisfsTer23 | |
| ENST00000265104.4:c.10815del | ENSP00000265104.4:p.Pro3606HisfsTer23 | |
| NM_001369.2:c.10815del | NP_001360.1:p.Pro3606HisfsTer23 | |
| XM_005248262.2:c.10770del | XP_005248319.1:p.Pro3591HisfsTer23 | |
| XM_005248262.3:c.10923del | XP_005248319.2:p.Pro3642HisfsTer23 | |
| XM_017009177.1:c.10923del | XP_016864666.1:p.Pro3642HisfsTer23 | |
| XM_017009178.1:c.9828del | XP_016864667.1:p.Pro3277HisfsTer23 | |
| XM_017009179.2:c.9828del | XP_016864668.1:p.Pro3277HisfsTer23 | |
| XM_017009180.1:c.10923del | XP_016864669.1:p.Pro3642HisfsTer23 | |
| XM_017009181.1:c.10923del | XP_016864670.1:p.Pro3642HisfsTer23 | |
| XM_017009182.1:c.10923del | XP_016864671.1:p.Pro3642HisfsTer23 | |
| XM_017009185.1:c.6012del | XP_016864674.1:p.Pro2005HisfsTer23 | |
| XM_017009186.1:c.5565del | XP_016864675.1:p.Pro1856HisfsTer23 | |
| XM_017009188.1:c.4902del | XP_016864677.1:p.Pro1635HisfsTer23 | |
| XM_024454388.1:c.9828del | XP_024310156.1:p.Pro3277HisfsTer23 | |
| XM_024454389.1:c.9417del | XP_024310157.1:p.Pro3140HisfsTer23 | |
| NM_001369.3:c.10815del MANE Select | NP_001360.1:p.Pro3606HisfsTer23 |