Linked Data
ClinVar Variation Id:
36356
dbSNP Id:
rs193922476
MyVariant Identifiers:
chr20:g.43047142_43047144delinsTCAA (hg19)
chr20:g.44418502_44418504delinsTCAA (hg38)
ERepo:
CA213966/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44418502_44418504delinsTCAA , CM000682.2:g.44418502_44418504delinsTCAA | GRCh38 |
| NC_000020.10:g.43047142_43047144delinsTCAA , CM000682.1:g.43047142_43047144delinsTCAA | GRCh37 |
| NC_000020.9:g.42480556_42480558delinsTCAA | NCBI36 |
| NG_009818.1:g.67702_67704delinsTCAA , LRG_483:g.67702_67704delinsTCAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000316673.9:c.660_662delinsTCAA MANE Select | ENSP00000315180.4:p.Leu221GlnfsTer6 | |
| ENST00000316099.10:c.726_728delinsTCAA | ENSP00000312987.3:p.Leu243GlnfsTer6 | |
| ENST00000619550.5:c.700_702delinsTCAA | ||
| ENST00000683148.1:n.702_704delinsTCAA | ||
| ENST00000683657.1:n.1850_1852delinsTCAA | ||
| ENST00000316099.9:c.726_728delinsTCAA | ENSP00000312987.3:p.Leu243GlnfsTer6 | |
| ENST00000316099.8:c.726_728delinsTCAA | ENSP00000312987.3:p.Leu243GlnfsTer6 | |
| ENST00000316673.8:c.660_662delinsTCAA | ENSP00000315180.4:p.Leu221GlnfsTer6 | |
| ENST00000372920.1:c.*493_*495delinsTCAA | ENSP00000362011.1:n.*493_*495delinsTCAA | |
| ENST00000415691.2:c.726_728delinsTCAA | ENSP00000412111.1:p.Leu243GlnfsTer6 | |
| ENST00000443598.6:c.726_728delinsTCAA | ENSP00000410911.2:p.Leu243GlnfsTer6 | |
| ENST00000457232.5:c.660_662delinsTCAA | ENSP00000396216.1:p.Leu221GlnfsTer6 | |
| ENST00000609795.5:c.660_662delinsTCAA | ENSP00000476609.1:p.Leu221GlnfsTer6 | |
| ENST00000619550.4:c.651_653delinsTCAA | ENSP00000481331.1:p.Leu218GlnfsTer6 | |
| NM_000457.4:c.726_728delinsTCAA , LRG_483t2:c.726_728delinsTCAA | NP_000448.3:p.Leu243GlnfsTer6 | |
| NM_001030003.2:c.660_662delinsTCAA | NP_001025174.1:p.Leu221GlnfsTer6 | |
| NM_001030004.2:c.660_662delinsTCAA | NP_001025175.1:p.Leu221GlnfsTer6 | |
| NM_001258355.1:c.705_707delinsTCAA | NP_001245284.1:p.Leu236GlnfsTer6 | |
| NM_001287182.1:c.651_653delinsTCAA | NP_001274111.1:p.Leu218GlnfsTer6 | |
| NM_001287183.1:c.651_653delinsTCAA , LRG_483t3:c.651_653delinsTCAA | NP_001274112.1:p.Leu218GlnfsTer6 | |
| NM_001287184.1:c.651_653delinsTCAA | NP_001274113.1:p.Leu218GlnfsTer6 | |
| NM_175914.4:c.660_662delinsTCAA , LRG_483t1:c.660_662delinsTCAA | NP_787110.2:p.Leu221GlnfsTer6 | |
| NM_178849.2:c.726_728delinsTCAA | NP_849180.1:p.Leu243GlnfsTer6 | |
| NM_178850.2:c.726_728delinsTCAA | NP_849181.1:p.Leu243GlnfsTer6 | |
| XM_005260407.2:c.843_845delinsTCAA | XP_005260464.1:p.Leu282GlnfsTer6 | |
| XM_011528797.1:c.774_776delinsTCAA | XP_011527099.1:p.Leu259GlnfsTer6 | |
| XM_011528798.1:c.774_776delinsTCAA | XP_011527100.1:p.Leu259GlnfsTer6 | |
| XM_005260407.4:c.843_845delinsTCAA | XP_005260464.1:p.Leu282GlnfsTer6 | |
| NM_001030003.3:c.660_662delinsTCAA | NP_001025174.1:p.Leu221GlnfsTer6 | |
| NM_001030004.3:c.660_662delinsTCAA | NP_001025175.1:p.Leu221GlnfsTer6 | |
| NM_001258355.2:c.705_707delinsTCAA | NP_001245284.1:p.Leu236GlnfsTer6 | |
| NM_001287182.2:c.651_653delinsTCAA | NP_001274111.1:p.Leu218GlnfsTer6 | |
| NM_001287184.2:c.651_653delinsTCAA | NP_001274113.1:p.Leu218GlnfsTer6 | |
| NM_178849.3:c.726_728delinsTCAA | NP_849180.1:p.Leu243GlnfsTer6 | |
| NM_178850.3:c.726_728delinsTCAA | NP_849181.1:p.Leu243GlnfsTer6 | |
| NM_000457.5:c.726_728delinsTCAA | NP_000448.3:p.Leu243GlnfsTer6 | |
| NM_000457.6:c.726_728delinsTCAA | NP_000448.3:p.Leu243GlnfsTer6 | |
| NM_001287183.2:c.651_653delinsTCAA | NP_001274112.1:p.Leu218GlnfsTer6 | |
| NM_175914.5:c.660_662delinsTCAA MANE Select | NP_787110.2:p.Leu221GlnfsTer6 |