Linked Data
ClinVar Variation Id:
1074509
ClinVar RCV Id:
RCV001387833
dbSNP Id:
rs2134594449
gnomAD v4:
11-6616789-TGTGC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616790_6616793del , CM000673.2:g.6616790_6616793del | GRCh38 |
| NC_000011.9:g.6638021_6638024del , CM000673.1:g.6638021_6638024del | GRCh37 |
| NC_000011.8:g.6594597_6594600del | NCBI36 |
| NG_008653.1:g.7669_7672del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.640_643del | ENSP00000507321.1:p.Ala214IlefsTer5 | |
| ENST00000299427.12:c.754_757del MANE Select | ENSP00000299427.6:p.Ala252IlefsTer5 | |
| ENST00000436873.7:c.312+508_312+511del | ||
| ENST00000524788.2:n.1913_1916del | ||
| ENST00000524903.2:n.2029_2032del | ||
| ENST00000528807.2:n.410_413del | ||
| ENST00000530040.2:n.480-290_480-287del | ||
| ENST00000533371.6:c.25_28del | ENSP00000437066.1:p.Ala9IlefsTer5 | |
| ENST00000642892.1:c.25_28del | ENSP00000494165.1:p.Ala9IlefsTer5 | |
| ENST00000643439.1:c.*494_*497del | ENSP00000495849.1:n.*494_*497del | |
| ENST00000643479.1:n.783_786del | ||
| ENST00000643516.1:c.396-290_396-287del | ||
| ENST00000644151.1:n.2193_2196del | ||
| ENST00000644218.1:c.754_757del | ENSP00000493574.1:p.Ala252IlefsTer5 | |
| ENST00000644683.1:c.*207_*210del | ENSP00000494085.1:n.*207_*210del | |
| ENST00000644810.1:c.475_478del | ENSP00000495895.1:p.Ala159IlefsTer5 | |
| ENST00000644831.1:n.930_933del | ||
| ENST00000644933.1:c.25_28del | ENSP00000496133.1:p.Ala9IlefsTer5 | |
| ENST00000645020.1:n.2044_2047del | ||
| ENST00000645285.1:c.25_28del | ENSP00000495058.1:p.Ala9IlefsTer5 | |
| ENST00000645331.1:n.1120_1123del | ||
| ENST00000645620.1:c.25_28del | ENSP00000493657.1:p.Ala9IlefsTer5 | |
| ENST00000646777.1:n.930_933del | ||
| ENST00000647016.1:n.1234_1237del | ||
| ENST00000647152.1:c.25_28del | ENSP00000495893.1:p.Ala9IlefsTer5 | |
| ENST00000647209.1:c.*623_*626del | ENSP00000495558.1:n.*623_*626del | |
| ENST00000647346.1:n.1774_1777del | ||
| ENST00000299427.10:c.754_757del | ENSP00000299427.6:p.Ala252IlefsTer5 | |
| ENST00000436873.6:c.451-290_451-287del | ENSP00000398136.2:n.451-290_451-287del | |
| ENST00000524788.1:n.454_457del | ||
| ENST00000528807.1:n.304_307del | ||
| ENST00000533371.5:c.25_28del | ENSP00000437066.1:p.Ala9IlefsTer5 | |
| ENST00000611494.4:c.754_757del | ENSP00000484546.1:p.Ala252IlefsTer5 | |
| NM_000391.3:c.754_757del | NP_000382.3:p.Ala252IlefsTer5 | |
| NM_000391.4:c.754_757del MANE Select | NP_000382.3:p.Ala252IlefsTer5 |