Linked Data
ClinVar Variation Id:
243
ClinVar RCV Id:
RCV000000267
dbSNP Id:
rs121965012
gnomAD v4:
22-42619781-CGAA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42619783_42619785del , CM000684.2:g.42619783_42619785del | GRCh38 |
| NC_000022.10:g.43015789_43015791del , CM000684.1:g.43015789_43015791del | GRCh37 |
| NC_000022.9:g.41345733_41345735del | NCBI36 |
| NG_012194.1:g.34616_34618del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361740.9:c.1027_1029del | ENSP00000354468.5:p.Phe343del | |
| ENST00000402438.6:c.826_828del | ENSP00000385679.1:p.Phe276del | |
| ENST00000407332.6:c.913_915del | ENSP00000384457.2:p.Phe305del | |
| ENST00000407623.8:c.826_828del | ENSP00000384834.3:p.Phe276del | |
| ENST00000617178.5:c.432_434del | ||
| ENST00000684963.1:n.2635_2637del | ||
| ENST00000685184.1:n.487_489del | ||
| ENST00000686523.1:c.*844_*846del | ENSP00000508940.1:n.*844_*846del | |
| ENST00000687183.1:n.1171_1173del | ||
| ENST00000687198.1:c.826_828del | ENSP00000508492.1:p.Phe276del | |
| ENST00000688117.1:c.994_996del | ENSP00000509015.1:p.Phe332del | |
| ENST00000688244.1:c.595_597del | ENSP00000510355.1:p.Phe199del | |
| ENST00000689001.1:n.1517_1519del | ||
| ENST00000689195.1:c.811_813del | ENSP00000509895.1:p.Phe271del | |
| ENST00000689239.1:n.1062_1064del | ||
| ENST00000689795.1:n.1156_1158del | ||
| ENST00000690835.1:c.*274_*276del | ENSP00000509038.1:n.*274_*276del | |
| ENST00000690993.1:n.1650_1652del | ||
| ENST00000691295.1:c.*378_*380del | ENSP00000508706.1:n.*378_*380del | |
| ENST00000692152.1:c.826_828del | ENSP00000509317.1:p.Phe276del | |
| ENST00000692344.1:n.1382_1384del | ||
| ENST00000693363.1:c.937_939del | ENSP00000510411.1:p.Phe313del | |
| ENST00000693367.1:c.842+53_842+55del | ENSP00000508815.1:n.842+53_842+55del | |
| ENST00000352397.10:c.895_897del MANE Select | ENSP00000338461.6:p.Phe299del | |
| ENST00000352397.9:c.895_897del | ENSP00000338461.6:p.Phe299del | |
| ENST00000361740.8:c.994_996del | ENSP00000354468.4:p.Phe332del | |
| ENST00000402438.5:c.826_828del | ENSP00000385679.1:p.Phe276del | |
| ENST00000407332.5:c.826_828del | ENSP00000384457.1:p.Phe276del | |
| ENST00000407623.7:c.826_828del | ENSP00000384834.3:p.Phe276del | |
| ENST00000470741.1:n.3029_3031del | ||
| NM_000398.6:c.895_897del | NP_000389.1:p.Phe299del | |
| NM_001129819.2:c.826_828del | NP_001123291.1:p.Phe276del | |
| NM_001171660.1:c.994_996del | NP_001165131.1:p.Phe332del | |
| NM_001171661.1:c.826_828del | NP_001165132.1:p.Phe276del | |
| NM_007326.4:c.826_828del | NP_015565.1:p.Phe276del | |
| NM_000398.7:c.895_897del MANE Select | NP_000389.1:p.Phe299del | |
| NM_001171660.2:c.994_996del | NP_001165131.1:p.Phe332del |