Linked Data
ClinVar Variation Id:
127112
ClinVar RCV Id:
RCV000114970
dbSNP Id:
rs483352878
MyVariant Identifiers:
chr11:g.88911113_88911115delinsGG (hg19)
chr11:g.89177945_89177947delinsGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89177945_89177947delinsGG , CM000673.2:g.89177945_89177947delinsGG | GRCh38 |
| NC_000011.9:g.88911113_88911115delinsGG , CM000673.1:g.88911113_88911115delinsGG | GRCh37 |
| NC_000011.8:g.88550761_88550763delinsGG | NCBI36 |
| NG_008748.1:g.5074_5076delinsGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263321.6:c.-9_-7delinsGG MANE Select | ENSP00000263321.4:n.-9_-7delinsGG | |
| ENST00000263321.5:c.-9_-7delinsGG | ENSP00000263321.4:n.-9_-7delinsGG | |
| ENST00000526139.1:n.53_55delinsGG | ||
| NM_000372.4:c.-9_-7delinsGG | NP_000363.1:n.-9_-7delinsGG | |
| XM_011542970.1:c.-9_-7delinsGG | XP_011541272.1:n.-9_-7delinsGG | |
| XM_011542970.2:c.-9_-7delinsGG | XP_011541272.1:n.-9_-7delinsGG | |
| XR_001748321.1:n.2718-64414_2718-64412delinsCC | ||
| XR_001748322.1:n.2733-64414_2733-64412delinsCC | ||
| NM_000372.5:c.-9_-7delinsGG MANE Select | NP_000363.1:n.-9_-7delinsGG |