Linked Data
dbSNP Id:
rs121965017
ExAC:
22:43015916 TCTC / T
gnomAD v2:
22-43015916-TCTC-T
gnomAD v3:
22-42619910-TCTC-T
gnomAD v4:
22-42619910-TCTC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42619914_42619916del , CM000684.2:g.42619914_42619916del | GRCh38 |
| NC_000022.10:g.43015920_43015922del , CM000684.1:g.43015920_43015922del | GRCh37 |
| NC_000022.9:g.41345864_41345866del | NCBI36 |
| NG_012194.1:g.34487_34489del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361740.9:c.898_900del | ENSP00000354468.5:p.Glu300del | |
| ENST00000402438.6:c.697_699del | ENSP00000385679.1:p.Glu233del | |
| ENST00000407332.6:c.784_786del | ENSP00000384457.2:p.Glu262del | |
| ENST00000407623.8:c.697_699del | ENSP00000384834.3:p.Glu233del | |
| ENST00000617178.5:c.303_305del | ||
| ENST00000684963.1:n.2506_2508del | ||
| ENST00000685184.1:n.358_360del | ||
| ENST00000686523.1:c.*715_*717del | ENSP00000508940.1:n.*715_*717del | |
| ENST00000687183.1:n.1042_1044del | ||
| ENST00000687198.1:c.697_699del | ENSP00000508492.1:p.Glu233del | |
| ENST00000688117.1:c.865_867del | ENSP00000509015.1:p.Glu289del | |
| ENST00000688244.1:c.466_468del | ENSP00000510355.1:p.Glu156del | |
| ENST00000689001.1:n.1388_1390del | ||
| ENST00000689195.1:c.682_684del | ENSP00000509895.1:p.Glu228del | |
| ENST00000689239.1:n.933_935del | ||
| ENST00000689795.1:n.1027_1029del | ||
| ENST00000690835.1:c.*145_*147del | ENSP00000509038.1:n.*145_*147del | |
| ENST00000690993.1:n.1521_1523del | ||
| ENST00000691295.1:c.*249_*251del | ENSP00000508706.1:n.*249_*251del | |
| ENST00000692152.1:c.697_699del | ENSP00000509317.1:p.Glu233del | |
| ENST00000692344.1:n.1253_1255del | ||
| ENST00000693363.1:c.808_810del | ENSP00000510411.1:p.Glu270del | |
| ENST00000693367.1:c.766_768del | ENSP00000508815.1:p.Glu256del | |
| ENST00000352397.10:c.766_768del MANE Select | ENSP00000338461.6:p.Glu256del | |
| ENST00000352397.9:c.766_768del | ENSP00000338461.6:p.Glu256del | |
| ENST00000361740.8:c.865_867del | ENSP00000354468.4:p.Glu289del | |
| ENST00000402438.5:c.697_699del | ENSP00000385679.1:p.Glu233del | |
| ENST00000407332.5:c.697_699del | ENSP00000384457.1:p.Glu233del | |
| ENST00000407623.7:c.697_699del | ENSP00000384834.3:p.Glu233del | |
| ENST00000470741.1:n.2900_2902del | ||
| NM_000398.6:c.766_768del | NP_000389.1:p.Glu256del | |
| NM_001129819.2:c.697_699del | NP_001123291.1:p.Glu233del | |
| NM_001171660.1:c.865_867del | NP_001165131.1:p.Glu289del | |
| NM_001171661.1:c.697_699del | NP_001165132.1:p.Glu233del | |
| NM_007326.4:c.697_699del | NP_015565.1:p.Glu233del | |
| NM_000398.7:c.766_768del MANE Select | NP_000389.1:p.Glu256del | |
| NM_001171660.2:c.865_867del | NP_001165131.1:p.Glu289del |