Linked Data
ClinVar Variation Id:
421055
dbSNP Id:
rs1064794878
gnomAD v4:
10-87965389-TATAG-T
ERepo:
CA16619071/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87965393_87965396del , CM000672.2:g.87965393_87965396del | GRCh38 |
| NC_000010.10:g.89725150_89725153del , CM000672.1:g.89725150_89725153del | GRCh37 |
| NC_000010.9:g.89715130_89715133del | NCBI36 |
| NG_007466.2:g.106955_106958del , LRG_311:g.106955_106958del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.1226_1229del | ENSP00000514759.2:p.Arg409IlefsTer? | |
| ENST00000710265.1:c.*162_*165del | ENSP00000518161.1:n.*162_*165del | |
| ENST00000688158.2:n.1868_1871del | ||
| ENST00000688922.2:c.*963_*966del | ENSP00000508742.2:n.*963_*966del | |
| ENST00000700021.1:c.1088_1091del | ENSP00000514757.1:p.Arg363IlefsTer? | |
| ENST00000700022.1:c.*472_*475del | ENSP00000514758.1:n.*472_*475del | |
| ENST00000700023.1:n.2291_2294del | ||
| ENST00000700024.1:n.2525_2528del | ||
| ENST00000706954.1:c.1133_1136del | ENSP00000516674.1:p.Arg378IlefsTer? | |
| ENST00000706955.1:c.*1168_*1171del | ENSP00000516675.1:n.*1168_*1171del | |
| ENST00000686459.1:c.*719_*722del | ENSP00000508909.1:n.*719_*722del | |
| ENST00000688158.1:c.*1244_*1247del | ENSP00000509254.1:n.*1244_*1247del | |
| ENST00000688308.1:c.1133_1136del | ENSP00000508752.1:p.Arg378IlefsTer? | |
| ENST00000688922.1:c.1054_1057del | ||
| ENST00000693560.1:c.1652_1655del | ENSP00000509861.1:p.Arg551IlefsTer? | |
| ENST00000371953.8:c.1133_1136del MANE Select | ENSP00000361021.3:p.Arg378IlefsTer? | |
| ENST00000371953.7:c.1133_1136del | ENSP00000361021.3:p.Arg378IlefsTer? | |
| NM_000314.5:c.1133_1136del | NP_000305.3:p.Arg378IlefsTer? | |
| NM_000314.6:c.1133_1136del | NP_000305.3:p.Arg378IlefsTer? | |
| NM_001304717.2:c.1652_1655del | NP_001291646.2:p.Arg551IlefsTer? | |
| NM_001304718.1:c.542_545del | NP_001291647.1:p.Arg181IlefsTer? | |
| XM_006717926.2:c.1088_1091del | XP_006717989.1:p.Arg363IlefsTer? | |
| XM_011539982.1:c.1037_1040del | XP_011538284.1:p.Arg346IlefsTer? | |
| XR_945791.1:n.1703_1706del | ||
| NM_000314.7:c.1133_1136del | NP_000305.3:p.Arg378IlefsTer? | |
| NM_001304717.5:c.1652_1655del | NP_001291646.4:p.Arg551IlefsTer? | |
| NM_001304718.2:c.542_545del | NP_001291647.1:p.Arg181IlefsTer? | |
| NM_000314.8:c.1133_1136del MANE Select | NP_000305.3:p.Arg378IlefsTer? |