Linked Data
ClinVar Variation Id:
371567
ClinVar RCV Id:
RCV000410806
dbSNP Id:
rs1057517372
MyVariant Identifiers:
chr14:g.88416254_88416255insCTA (hg19)
chr14:g.87949910_87949911insCTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.87949912_87949913insACT , CM000676.2:g.87949912_87949913insACT | GRCh38 |
| NC_000014.8:g.88416256_88416257insACT , CM000676.1:g.88416256_88416257insACT | GRCh37 |
| NC_000014.7:g.87486009_87486010insACT | NCBI36 |
| NG_011853.2:g.48653_48654insTAG | |
| NG_011853.3:g.48653_48654insTAG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261304.7:c.1272_1273insTAG | ||
| ENST00000261304.6:c.1272_1273insTAG | ||
| ENST00000393568.8:c.1203_1204insTAG | ||
| ENST00000393569.6:c.1194_1195insTAG | ||
| ENST00000544807.6:c.1104_1105insTAG | ||
| ENST00000555000.5:c.639_640insTAG | ||
| ENST00000557316.5:c.*670_*671insTAG | ENSP00000452314.1:n.*670_*671insTAG | |
| NM_000153.3:c.1272_1273insTAG | ||
| NM_001201401.1:c.1203_1204insTAG | ||
| NM_001201402.1:c.1194_1195insTAG | ||
| XM_011536618.1:c.1104_1105insTAG | ||
| XM_011536618.2:c.1104_1105insTAG | ||
| NM_000153.4:c.1272_1273insTAG | ||
| NM_001201401.2:c.1203_1204insTAG | ||
| NM_001201402.2:c.1194_1195insTAG |