gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000301 (NFE)
Exomes Max Group AF
0.0000032 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.37965691_37965696dup , CM000670.2:g.37965691_37965696dup | GRCh38 |
| NC_000008.10:g.37823209_37823214dup , CM000670.1:g.37823209_37823214dup | GRCh37 |
| NC_000008.9:g.37942366_37942371dup | NCBI36 |
| NG_011936.1:g.5979_5984dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000345060.5:c.782_787dup MANE Select | ENSP00000343782.3:p.Pro262_Val263insAlaPro | |
| ENST00000520341.2:n.910_915dup | ||
| ENST00000647937.1:c.266_271dup | ENSP00000497740.1:p.Pro90_Val91insAlaPro | |
| ENST00000345060.4:c.782_787dup | ENSP00000343782.3:p.Pro262_Val263insAlaPro | |
| ENST00000520341.1:n.57_62dup | ||
| ENST00000614635.1:c.782_787dup | ENSP00000480325.1:p.Pro262_Val263insAlaPro | |
| NM_000025.2:c.782_787dup | NP_000016.1:p.Pro262_Val263insAlaPro | |
| NM_000025.3:c.782_787dup MANE Select | NP_000016.1:p.Pro262_Val263insAlaPro |