Linked Data
ClinVar Variation Id:
1338288
dbSNP Id:
rs374380640
ExAC:
8:61769037 CGGA / C
gnomAD v2:
8-61769037-CGGA-C
gnomAD v3:
8-60856478-CGGA-C
gnomAD v4:
8-60856478-CGGA-C
COSMIC:
COSM1319701
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.60856492_60856494del , CM000670.2:g.60856492_60856494del | GRCh38 |
| NC_000008.10:g.61769051_61769053del , CM000670.1:g.61769051_61769053del | GRCh37 |
| NC_000008.9:g.61931605_61931607del | NCBI36 |
| NG_007009.1:g.182713_182715del , LRG_176:g.182713_182715del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695850.1:n.388_390del | ||
| ENST00000695853.1:c.*271_*273del | ENSP00000512218.1:n.*271_*273del | |
| ENST00000423902.7:c.7212_7214del MANE Select | ENSP00000392028.1:p.Arg2405del | |
| ENST00000423902.6:c.7212_7214del | ENSP00000392028.1:p.Arg2405del | |
| ENST00000524602.5:c.1717-5737_1717-5735del | ENSP00000437061.1:n.1717-5737_1717-5735del | |
| ENST00000529472.1:n.393_395del | ||
| NM_001316690.1:c.1717-5737_1717-5735del | NP_001303619.1:n.1717-5737_1717-5735del | |
| NM_017780.3:c.7212_7214del | NP_060250.2:p.Arg2405del | |
| XM_011517553.1:c.7302_7304del | XP_011515855.1:p.Arg2435del | |
| XM_011517554.1:c.7302_7304del | XP_011515856.1:p.Arg2435del | |
| XM_011517555.1:c.7299_7301del | XP_011515857.1:p.Arg2434del | |
| XM_011517556.1:c.7302_7304del | XP_011515858.1:p.Arg2435del | |
| XM_011517557.1:c.5289_5291del | XP_011515859.1:p.Arg1764del | |
| XM_011517558.1:c.4839_4841del | XP_011515860.1:p.Arg1614del | |
| XM_011517559.1:c.4047_4049del | XP_011515861.1:p.Arg1350del | |
| XM_011517553.2:c.7302_7304del | XP_011515855.1:p.Arg2435del | |
| XM_011517554.3:c.7302_7304del | XP_011515856.1:p.Arg2435del | |
| XM_011517555.2:c.7299_7301del | XP_011515857.1:p.Arg2434del | |
| XM_017013612.1:c.7302_7304del | XP_016869101.1:p.Arg2435del | |
| XM_017013613.1:c.7209_7211del | XP_016869102.1:p.Arg2404del | |
| NM_017780.4:c.7212_7214del MANE Select | NP_060250.2:p.Arg2405del |