Linked Data
ClinVar Variation Id:
454886
ClinVar RCV Id:
RCV000526862
dbSNP Id:
rs771732758
gnomAD v2:
17-78010483-G-GCGGGCCGGTAAGC
gnomAD v3:
17-80036684-G-GCGGGCCGGTAAGC
gnomAD v4:
17-80036684-G-GCGGGCCGGTAAGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80036692_80036704dup , CM000679.2:g.80036692_80036704dup | GRCh38 |
| NC_000017.10:g.78010491_78010503dup , CM000679.1:g.78010491_78010503dup | GRCh37 |
| NC_000017.9:g.75625086_75625098dup | NCBI36 |
| NG_029761.1:g.5061_5073dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397545.9:c.29+1_29+13dup | ||
| ENST00000269318.9:c.29+1_29+13dup | ||
| ENST00000374876.4:c.29+1_29+13dup | ||
| ENST00000374877.7:c.29+1_29+13dup | ||
| ENST00000397545.8:c.29+1_29+13dup | ||
| ENST00000572083.5:n.28+1_28+13dup | ||
| ENST00000572270.1:n.41_53dup | ||
| ENST00000574099.1:c.-127_-115dup | ENSP00000460002.1:n.-127_-115dup | |
| ENST00000576033.5:c.-139+1_-139+13dup | ||
| ENST00000576241.1:n.15+1_15+13dup | ||
| NM_001243342.1:c.29+1_29+13dup | ||
| NM_017950.3:c.29+1_29+13dup | ||
| XM_005257492.3:c.29+1_29+13dup | ||
| XM_011524963.1:c.-127_-115dup | XP_011523265.1:n.-127_-115dup | |
| XM_011524965.1:c.29+1_29+13dup | ||
| XR_934495.1:n.60+1_60+13dup | ||
| NM_001330508.1:c.29+1_29+13dup | ||
| XM_011524963.3:c.-127_-115dup | XP_011523265.1:n.-127_-115dup | |
| XM_011524965.3:c.29+1_29+13dup | ||
| XM_017024807.1:c.29+1_29+13dup | ||
| XR_001752550.2:n.60+1_60+13dup | ||
| XR_934495.2:n.60+1_60+13dup | ||
| NM_017950.4:c.29+1_29+13dup | ||
| NM_001330508.2:c.29+1_29+13dup | ||
| NM_001243342.2:c.29+1_29+13dup |