Linked Data
ClinVar Variation Id:
5454
dbSNP Id:
rs113993962
MyVariant Identifiers:
chr15:g.91310153_91310158delinsTAGATTC (hg19)
chr15:g.90766923_90766928delinsTAGATTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90766923_90766928delinsTAGATTC , CM000677.2:g.90766923_90766928delinsTAGATTC | GRCh38 |
| NC_000015.9:g.91310153_91310158delinsTAGATTC , CM000677.1:g.91310153_91310158delinsTAGATTC | GRCh37 |
| NC_000015.8:g.89111157_89111162delinsTAGATTC | NCBI36 |
| NG_007272.1:g.54552_54557delinsTAGATTC , LRG_20:g.54552_54557delinsTAGATTC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355112.8:c.2207_2212delinsTAGATTC MANE Select | ENSP00000347232.3:p.Tyr736LeufsTer5 | |
| ENST00000648453.1:c.2207_2212delinsTAGATTC | ENSP00000497646.1:p.Tyr736LeufsTer5 | |
| ENST00000680772.1:c.2207_2212delinsTAGATTC | ENSP00000506117.1:p.Tyr736LeufsTer5 | |
| ENST00000681142.1:c.2207_2212delinsTAGATTC | ENSP00000506682.1:p.Tyr736LeufsTer5 | |
| ENST00000355112.7:c.2207_2212delinsTAGATTC | ENSP00000347232.3:p.Tyr736LeufsTer5 | |
| ENST00000559426.5:n.384_389delinsTAGATTC | ||
| ENST00000559724.5:c.*1131_*1136delinsTAGATTC | ENSP00000453359.1:n.*1131_*1136delinsTAGA... | |
| ENST00000560136.5:n.233_238delinsTAGATTC | ||
| ENST00000560509.5:c.2207_2212delinsTAGATTC | ENSP00000454158.1:p.Tyr736LeufsTer5 | |
| NM_000057.3:c.2207_2212delinsTAGATTC | NP_000048.1:p.Tyr736LeufsTer5 | |
| NM_001287246.1:c.2207_2212delinsTAGATTC | NP_001274175.1:p.Tyr736LeufsTer5 | |
| NM_001287247.1:c.2207_2212delinsTAGATTC | NP_001274176.1:p.Tyr736LeufsTer5 | |
| NM_001287248.1:c.1082_1087delinsTAGATTC | NP_001274177.1:p.Tyr361LeufsTer5 | |
| XM_006720632.2:c.245_250delinsTAGATTC | XP_006720695.1:p.Tyr82LeufsTer5 | |
| XM_011521881.1:c.893_898delinsTAGATTC | XP_011520183.1:p.Tyr298LeufsTer5 | |
| XM_011521882.1:c.2207_2212delinsTAGATTC | XP_011520184.1:p.Tyr736LeufsTer5 | |
| XM_011521881.2:c.893_898delinsTAGATTC | XP_011520183.1:p.Tyr298LeufsTer5 | |
| XM_011521882.3:c.2207_2212delinsTAGATTC | XP_011520184.1:p.Tyr736LeufsTer5 | |
| NM_000057.4:c.2207_2212delinsTAGATTC MANE Select | NP_000048.1:p.Tyr736LeufsTer5 | |
| NM_001287246.2:c.2207_2212delinsTAGATTC | NP_001274175.1:p.Tyr736LeufsTer5 | |
| NM_001287247.2:c.2207_2212delinsTAGATTC | NP_001274176.1:p.Tyr736LeufsTer5 | |
| NM_001287248.2:c.1082_1087delinsTAGATTC | NP_001274177.1:p.Tyr361LeufsTer5 |