Linked Data
ClinVar Variation Id:
183391
ClinVar RCV Id:
RCV000162205
dbSNP Id:
rs786201007
PubMed:
PMID:17519308
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.12717898_12717916dup , CM000674.2:g.12717898_12717916dup | GRCh38 |
| NC_000012.11:g.12870832_12870850dup , CM000674.1:g.12870832_12870850dup | GRCh37 |
| NC_000012.10:g.12762099_12762117dup | NCBI36 |
| NG_016341.1:g.5531_5549dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000614874.2:c.59_77dup | ENSP00000507272.1:p.Ser27GlyfsTer? | |
| ENST00000682620.1:n.1631-927_1631-909dup | ||
| ENST00000684771.1:n.585-927_585-909dup | ||
| ENST00000228872.9:c.59_77dup MANE Select | ENSP00000228872.4:p.Ser27GlyfsTer? | |
| ENST00000228872.8:c.59_77dup | ENSP00000228872.4:p.Ser27GlyfsTer? | |
| ENST00000396340.1:c.59_77dup | ENSP00000379629.1:p.Ser27GlyfsTer? | |
| ENST00000442489.1:c.38_56dup | ENSP00000407597.1:p.Ser20GlyfsTer? | |
| ENST00000477087.1:n.155-927_155-909dup | ||
| NM_004064.4:c.59_77dup | NP_004055.1:p.Ser27GlyfsTer? | |
| NM_004064.5:c.59_77dup MANE Select | NP_004055.1:p.Ser27GlyfsTer? |