Linked Data
ClinVar Variation Id:
102867
ClinVar RCV Id:
RCV000089128
dbSNP Id:
rs199475653
MyVariant Identifiers:
chr12:g.103246595_103246596insA (hg19)
chr12:g.102852817_102852818insA (hg38)
ERepo:
CA229810/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852817_102852818insA , CM000674.2:g.102852817_102852818insA | GRCh38 |
| NC_000012.11:g.103246595_103246596insA , CM000674.1:g.103246595_103246596insA | GRCh37 |
| NC_000012.10:g.101770725_101770726insA | NCBI36 |
| NG_008690.1:g.69785_69786insT | |
| NG_008690.2:g.110593_110594insT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.839_840insT MANE Select | ENSP00000448059.1:p.Glu280AspfsTer3 | |
| ENST00000307000.7:c.824_825insT | ENSP00000303500.2:p.Glu275AspfsTer3 | |
| ENST00000549247.6:n.598_599insT | ||
| ENST00000553106.5:c.839_840insT | ENSP00000448059.1:p.Glu280AspfsTer3 | |
| NM_000277.1:c.839_840insT | NP_000268.1:p.Glu280AspfsTer3 | |
| XM_011538422.1:c.839_840insT | XP_011536724.1:p.Glu280AspfsTer3 | |
| NM_000277.2:c.839_840insT | NP_000268.1:p.Glu280AspfsTer3 | |
| NM_001354304.1:c.839_840insT | NP_001341233.1:p.Glu280AspfsTer3 | |
| NM_000277.3:c.839_840insT MANE Select | NP_000268.1:p.Glu280AspfsTer3 | |
| NM_001354304.2:c.839_840insT | NP_001341233.1:p.Glu280AspfsTer3 |