ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00059512 (EAS)
Genomes Max Group AF
0.00050505 (EAS)
Exomes Max Group AF
0.00054385 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52396983_52396984del , CM000665.2:g.52396983_52396984del | GRCh38 |
| NC_000003.11:g.52430999_52431000del , CM000665.1:g.52430999_52431000del | GRCh37 |
| NC_000003.10:g.52406039_52406040del | NCBI36 |
| NG_052911.1:g.85665_85666del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.11726_11727del MANE Select | ENSP00000401514.2:p.Pro3909ArgfsTer? | |
| ENST00000420323.6:c.11726_11727del | ENSP00000401514.2:p.Pro3909ArgfsTer? | |
| ENST00000486752.5:n.12183_12184del | ||
| ENST00000488988.5:n.3512_3513del | ||
| ENST00000490713.5:c.2426_2427del | ENSP00000419071.1:p.Pro809ArgfsTer? | |
| NM_015512.4:c.11726_11727del | NP_056327.4:p.Pro3909ArgfsTer? | |
| XM_011533577.1:c.11795_11796del | XP_011531879.1:p.Pro3932ArgfsTer? | |
| XM_017006129.1:c.11795_11796del | XP_016861618.1:p.Pro3932ArgfsTer? | |
| XM_017006130.1:c.11726_11727del | XP_016861619.1:p.Pro3909ArgfsTer? | |
| XM_017006131.1:c.11669_11670del | XP_016861620.1:p.Pro3890ArgfsTer? | |
| XR_001740098.1:n.14944_14945del | ||
| XR_001740099.1:n.14944_14945del | ||
| NM_015512.5:c.11726_11727del MANE Select | NP_056327.4:p.Pro3909ArgfsTer? |