Linked Data
dbSNP Id:
rs1212142848
MyVariant Identifiers:
chr11:g.640333_640334insGGAGAGGAGGGGG (hg19)
chr11:g.640333_640334insGGAGAGGAGGGGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.640336_640348dup , CM000673.2:g.640336_640348dup | GRCh38 |
| NC_000011.9:g.640336_640348dup , CM000673.1:g.640336_640348dup | GRCh37 |
| NC_000011.8:g.630336_630348dup | NCBI36 |
| NG_021241.1:g.8032_8044dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000176183.6:c.1057+30_1057+42dup MANE Select | ENSP00000176183.5:n.1057+30_1057+42dup | |
| ENST00000176183.5:c.1057+30_1057+42dup | ENSP00000176183.5:n.1057+30_1057+42dup | |
| NM_000797.3:c.1057+30_1057+42dup | NP_000788.2:n.1057+30_1057+42dup | |
| NM_000797.4:c.1057+30_1057+42dup MANE Select | NP_000788.2:n.1057+30_1057+42dup |