Linked Data
ClinVar Variation Id:
222734
ClinVar RCV Id:
RCV000208262
dbSNP Id:
rs869025483
MyVariant Identifiers:
chr14:g.23883014_23883017delinsA (hg19)
chr14:g.23413805_23413808delinsA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23413805_23413808delinsA , CM000676.2:g.23413805_23413808delinsA | GRCh38 |
| NC_000014.8:g.23883014_23883017delinsA , CM000676.1:g.23883014_23883017delinsA | GRCh37 |
| NC_000014.7:g.22952854_22952857delinsA | NCBI36 |
| NG_007884.1:g.26854_26857delinsT , LRG_384:g.26854_26857delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355349.4:c.5741_5744delinsT MANE Select | ENSP00000347507.3:p.Glu1914_Ser1915delins... | |
| ENST00000355349.3:c.5741_5744delinsT | ENSP00000347507.3:p.Glu1914_Ser1915delins... | |
| NM_000257.3:c.5741_5744delinsT | NP_000248.2:p.Glu1914_Ser1915delinsVal | |
| XM_017021340.1:c.5741_5744delinsT | XP_016876829.1:p.Glu1914_Ser1915delinsVal... | |
| NM_000257.4:c.5741_5744delinsT MANE Select | NP_000248.2:p.Glu1914_Ser1915delinsVal |