Linked Data
ClinVar Variation Id:
102522
dbSNP Id:
rs62506951
gnomAD v2:
12-103237523-A-AG
gnomAD v4:
12-102843745-A-AG
MyVariant Identifiers:
chr12:g.103237525dupG (hg19)
chr12:g.103237524_103237525insG (hg19)
chr12:g.103237523_103237524insG (hg19)
chr12:g.102843747dupG (hg38)
chr12:g.102843745_102843746insG (hg38)
ERepo:
CA229342/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102843750dup , CM000674.2:g.102843750dup | GRCh38 |
| NC_000012.11:g.103237528dup , CM000674.1:g.103237528dup | GRCh37 |
| NC_000012.10:g.101761658dup | NCBI36 |
| NG_008690.1:g.78857dup | |
| NG_008690.2:g.119665dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.1099dup MANE Select | ENSP00000448059.1:p.Leu367ProfsTer27 | |
| ENST00000307000.7:c.1084dup | ENSP00000303500.2:p.Leu362ProfsTer27 | |
| ENST00000549247.6:n.858dup | ||
| ENST00000551114.2:n.761dup | ||
| ENST00000553106.5:c.1099dup | ENSP00000448059.1:p.Leu367ProfsTer27 | |
| ENST00000635477.1:c.203dup | ||
| ENST00000635528.1:n.614dup | ||
| NM_000277.1:c.1099dup | NP_000268.1:p.Leu367ProfsTer27 | |
| XM_011538422.1:c.1042dup | XP_011536724.1:p.Leu348ProfsTer27 | |
| NM_000277.2:c.1099dup | NP_000268.1:p.Leu367ProfsTer27 | |
| NM_001354304.1:c.1099dup | NP_001341233.1:p.Leu367ProfsTer27 | |
| NM_000277.3:c.1099dup MANE Select | NP_000268.1:p.Leu367ProfsTer27 | |
| NM_001354304.2:c.1099dup | NP_001341233.1:p.Leu367ProfsTer27 |