Linked Data
ClinVar Variation Id:
420527
dbSNP Id:
rs1064794536
gnomAD v2:
2-135872933-T-TC
gnomAD v3:
2-135115363-T-TC
gnomAD v4:
2-135115363-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.135115363_135115364insC , CM000664.2:g.135115363_135115364insC | GRCh38 |
| NC_000002.11:g.135872933_135872934insC , CM000664.1:g.135872933_135872934insC | GRCh37 |
| NC_000002.10:g.135589403_135589404insC | NCBI36 |
| NG_016972.1:g.68099_68100insC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539493.3:c.630_631insC | ENSP00000444306.2:p.Ile211HisfsTer17 | |
| ENST00000685967.1:c.*105+2093_*105+2094insC | ENSP00000508423.1:n.*105+2093_*105+2094in... | |
| ENST00000686114.1:n.643_644insC | ||
| ENST00000687199.1:c.*698_*699insC | ENSP00000510319.1:n.*698_*699insC | |
| ENST00000688088.1:n.649_650insC | ||
| ENST00000688182.1:c.151-52330_151-52329insC | ENSP00000509324.1:n.151-52330_151-52329in... | |
| ENST00000689880.1:n.649_650insC | ||
| ENST00000690208.1:c.*308_*309insC | ENSP00000510746.1:n.*308_*309insC | |
| ENST00000690785.1:n.649_650insC | ||
| ENST00000691339.1:c.*253_*254insC | ENSP00000509953.1:n.*253_*254insC | |
| ENST00000691478.1:c.*729_*730insC | ENSP00000509081.1:n.*729_*730insC | |
| ENST00000693554.1:c.630_631insC | ENSP00000509030.1:p.Ile211HisfsTer17 | |
| ENST00000264158.13:c.630_631insC MANE Select | ENSP00000264158.8:p.Ile211HisfsTer17 | |
| ENST00000264158.12:c.630_631insC | ENSP00000264158.7:p.Ile211HisfsTer17 | |
| ENST00000442034.5:c.630_631insC | ENSP00000411418.1:p.Ile211HisfsTer17 | |
| ENST00000487003.5:n.699_700insC | ||
| ENST00000539493.2:c.498_499insC | ENSP00000444306.1:p.Ile167HisfsTer17 | |
| NM_001172435.1:c.630_631insC | NP_001165906.1:p.Ile211HisfsTer17 | |
| NM_012233.2:c.630_631insC | NP_036365.1:p.Ile211HisfsTer17 | |
| XM_011510822.1:c.630_631insC | XP_011509124.1:p.Ile211HisfsTer17 | |
| XM_011510823.1:c.630_631insC | XP_011509125.1:p.Ile211HisfsTer17 | |
| XM_011510824.1:c.630_631insC | XP_011509126.1:p.Ile211HisfsTer17 | |
| XM_011510825.1:c.630_631insC | XP_011509127.1:p.Ile211HisfsTer17 | |
| XM_011510823.3:c.630_631insC | XP_011509125.1:p.Ile211HisfsTer17 | |
| XM_011510825.3:c.630_631insC | XP_011509127.1:p.Ile211HisfsTer17 | |
| XR_001738674.2:n.657_658insC | ||
| NM_001172435.2:c.630_631insC | NP_001165906.1:p.Ile211HisfsTer17 | |
| NM_012233.3:c.630_631insC MANE Select | NP_036365.1:p.Ile211HisfsTer17 |