Linked Data
ClinVar Variation Id:
36301
ClinVar RCV Id:
RCV000029966
dbSNP Id:
rs193922552
MyVariant Identifiers:
chr11:g.5248232_5248233delinsAT (hg19)
chr11:g.5227002_5227003delinsAT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5227002_5227003delinsAT , CM000673.2:g.5227002_5227003delinsAT | GRCh38 |
| NC_000011.9:g.5248232_5248233delinsAT , CM000673.1:g.5248232_5248233delinsAT | GRCh37 |
| NC_000011.8:g.5204808_5204809delinsAT | NCBI36 |
| NG_000007.3:g.70613_70614delinsAT | |
| NG_059281.1:g.5069_5070delinsAT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647020.1:c.19_20delinsAT | ENSP00000494175.1:p.Glu7Met | |
| ENST00000335295.4:c.19_20delinsAT MANE Select | ENSP00000333994.3:p.Glu7Met | |
| ENST00000380315.2:c.19_20delinsAT | ENSP00000369671.2:p.Glu7Met | |
| ENST00000485743.1:n.70_71delinsAT | ||
| ENST00000633227.1:c.19_20delinsAT | ENSP00000488004.1:p.Glu7Met | |
| NM_000518.4:c.19_20delinsAT | NP_000509.1:p.Glu7Met | |
| NM_000518.5:c.19_20delinsAT MANE Select | NP_000509.1:p.Glu7Met |