Linked Data
ClinVar Variation Id:
422828
ClinVar RCV Id:
RCV000478390
dbSNP Id:
rs1064796028
gnomAD v3:
11-89178754-ATTC-A
gnomAD v4:
11-89178754-ATTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178759_89178761del , CM000673.2:g.89178759_89178761del | GRCh38 |
| NC_000011.9:g.88911927_88911929del , CM000673.1:g.88911927_88911929del | GRCh37 |
| NC_000011.8:g.88551575_88551577del | NCBI36 |
| NG_008748.1:g.5888_5890del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263321.6:c.806_808del MANE Select | ENSP00000263321.4:p.Phe269del | |
| ENST00000263321.5:c.806_808del | ENSP00000263321.4:p.Phe269del | |
| ENST00000526139.1:n.867_869del | ||
| NM_000372.4:c.806_808del | NP_000363.1:p.Phe269del | |
| XM_011542970.1:c.806_808del | XP_011541272.1:p.Phe269del | |
| XM_011542970.2:c.806_808del | XP_011541272.1:p.Phe269del | |
| XR_001748321.1:n.2718-65224_2718-65222del | ||
| XR_001748322.1:n.2733-65224_2733-65222del | ||
| NM_000372.5:c.806_808del MANE Select | NP_000363.1:p.Phe269del |