Linked Data
ClinVar Variation Id:
370206
ClinVar RCV Id:
RCV000409403
dbSNP Id:
rs1057516314
MyVariant Identifiers:
chr21:g.45707010_45707011delinsC (hg19)
chr21:g.44287127_44287128delinsC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44287127_44287128delinsC , CM000683.2:g.44287127_44287128delinsC | GRCh38 |
| NC_000021.8:g.45707010_45707011delinsC , CM000683.1:g.45707010_45707011delinsC | GRCh37 |
| NC_000021.7:g.44531438_44531439delinsC | NCBI36 |
| NG_009556.1:g.6248_6249delinsC , LRG_18:g.6248_6249delinsC |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000291582.6:c.457_458delinsC MANE Select | ENSP00000291582.5:p.Ser153ProfsTer6 | |
| ENST00000291582.5:c.457_458delinsC | ENSP00000291582.5:p.Ser153ProfsTer6 | |
| ENST00000527919.5:n.618_619delinsC | ||
| ENST00000530812.5:n.626_627delinsC | ||
| NM_000383.3:c.457_458delinsC | NP_000374.1:p.Ser153ProfsTer6 | |
| XM_011529551.1:c.457_458delinsC | XP_011527853.1:p.Ser153ProfsTer6 | |
| NM_000383.4:c.457_458delinsC MANE Select | NP_000374.1:p.Ser153ProfsTer6 |