Linked Data
ClinVar Variation Id:
93974
dbSNP Id:
rs113037606
ExAC:
11:68566834 TG / T
gnomAD v2:
11-68566834-TG-T
gnomAD v3:
11-68799366-TG-T
gnomAD v4:
11-68799366-TG-T
MyVariant Identifiers:
chr11:g.68566835del (hg19)
chr11:g.68566835delG (hg19)
chr11:g.68799367del (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68799371del , CM000673.2:g.68799371del | GRCh38 |
| NC_000011.9:g.68566839del , CM000673.1:g.68566839del | GRCh37 |
| NC_000011.8:g.68323415del | NCBI36 |
| NG_011801.1:g.47565del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265641.10:c.556-12del MANE Select | ENSP00000265641.4:n.556-12del | |
| ENST00000265641.9:c.556-12del | ENSP00000265641.4:n.556-12del | |
| ENST00000376618.6:c.556-12del | ENSP00000365803.2:n.556-12del | |
| ENST00000539743.5:c.556-12del | ENSP00000446108.1:n.556-12del | |
| ENST00000540367.5:c.556-12del | ENSP00000439084.1:n.556-12del | |
| NM_001031847.2:c.556-12del | NP_001027017.1:n.556-12del | |
| NM_001876.3:c.556-12del | NP_001867.2:n.556-12del | |
| XM_005273762.1:c.652-12del | XP_005273819.1:n.652-12del | |
| XM_005273763.1:c.652-12del | XP_005273820.1:n.652-12del | |
| XM_005273762.3:c.652-12del | XP_005273819.1:n.652-12del | |
| XM_017017220.1:c.556-12del | XP_016872709.1:n.556-12del | |
| NM_001876.4:c.556-12del MANE Select | NP_001867.2:n.556-12del | |
| NM_001031847.3:c.556-12del | NP_001027017.1:n.556-12del |