Linked Data
dbSNP Id:
rs1348484407
gnomAD v2:
22-43019690-GA-G
gnomAD v3:
22-42623684-GA-G
gnomAD v4:
22-42623684-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42623685del , CM000684.2:g.42623685del | GRCh38 |
| NC_000022.10:g.43019691del , CM000684.1:g.43019691del | GRCh37 |
| NC_000022.9:g.41349635del | NCBI36 |
| NG_012194.1:g.30715del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361740.9:c.865+104del | ENSP00000354468.5:n.865+104del | |
| ENST00000402438.6:c.664+104del | ENSP00000385679.1:n.664+104del | |
| ENST00000407332.6:c.751+104del | ENSP00000384457.2:n.751+104del | |
| ENST00000407623.8:c.664+104del | ENSP00000384834.3:n.664+104del | |
| ENST00000617178.5:c.270+104del | ||
| ENST00000684963.1:n.2473+104del | ||
| ENST00000685184.1:n.325+104del | ||
| ENST00000686523.1:c.*682+104del | ENSP00000508940.1:n.*682+104del | |
| ENST00000687183.1:n.1009+104del | ||
| ENST00000687198.1:c.664+104del | ENSP00000508492.1:n.664+104del | |
| ENST00000688117.1:c.832+104del | ENSP00000509015.1:n.832+104del | |
| ENST00000688244.1:c.433+104del | ENSP00000510355.1:n.433+104del | |
| ENST00000689001.1:n.1355+104del | ||
| ENST00000689195.1:c.649+104del | ENSP00000509895.1:n.649+104del | |
| ENST00000689239.1:n.900+104del | ||
| ENST00000689795.1:n.994+104del | ||
| ENST00000690835.1:c.*112+104del | ENSP00000509038.1:n.*112+104del | |
| ENST00000690993.1:n.1488+104del | ||
| ENST00000691295.1:c.*216+104del | ENSP00000508706.1:n.*216+104del | |
| ENST00000692152.1:c.664+104del | ENSP00000509317.1:n.664+104del | |
| ENST00000692344.1:n.1220+104del | ||
| ENST00000693363.1:c.775+104del | ENSP00000510411.1:n.775+104del | |
| ENST00000693367.1:c.733+104del | ENSP00000508815.1:n.733+104del | |
| ENST00000352397.10:c.733+104del MANE Select | ENSP00000338461.6:n.733+104del | |
| ENST00000352397.9:c.733+104del | ENSP00000338461.6:n.733+104del | |
| ENST00000361740.8:c.832+104del | ENSP00000354468.4:n.832+104del | |
| ENST00000402438.5:c.664+104del | ENSP00000385679.1:n.664+104del | |
| ENST00000407332.5:c.664+104del | ENSP00000384457.1:n.664+104del | |
| ENST00000407623.7:c.664+104del | ENSP00000384834.3:n.664+104del | |
| ENST00000470741.1:n.2867+104del | ||
| NM_000398.6:c.733+104del | NP_000389.1:n.733+104del | |
| NM_001129819.2:c.664+104del | NP_001123291.1:n.664+104del | |
| NM_001171660.1:c.832+104del | NP_001165131.1:n.832+104del | |
| NM_001171661.1:c.664+104del | NP_001165132.1:n.664+104del | |
| NM_007326.4:c.664+104del | NP_015565.1:n.664+104del | |
| NM_000398.7:c.733+104del MANE Select | NP_000389.1:n.733+104del | |
| NM_001171660.2:c.832+104del | NP_001165131.1:n.832+104del |