Linked Data
ClinVar Variation Id:
373911
dbSNP Id:
rs1057518763
gnomAD v3:
11-89178026-G-GT
gnomAD v4:
11-89178026-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89178027dup , CM000673.2:g.89178027dup | GRCh38 |
| NC_000011.9:g.88911195dup , CM000673.1:g.88911195dup | GRCh37 |
| NC_000011.8:g.88550843dup | NCBI36 |
| NG_008748.1:g.5156dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263321.6:c.74dup MANE Select | ENSP00000263321.4:p.Ser26LeufsTer3 | |
| ENST00000263321.5:c.74dup | ENSP00000263321.4:p.Ser26LeufsTer3 | |
| ENST00000526139.1:n.135dup | ||
| NM_000372.4:c.74dup | NP_000363.1:p.Ser26LeufsTer3 | |
| XM_011542970.1:c.74dup | XP_011541272.1:p.Ser26LeufsTer3 | |
| XM_011542970.2:c.74dup | XP_011541272.1:p.Ser26LeufsTer3 | |
| XR_001748321.1:n.2718-64494dup | ||
| XR_001748322.1:n.2733-64494dup | ||
| NM_000372.5:c.74dup MANE Select | NP_000363.1:p.Ser26LeufsTer3 |