Linked Data
ClinVar Variation Id:
203874
ClinVar RCV Id:
RCV000186078
dbSNP Id:
rs796052017
MyVariant Identifiers:
chr12:g.103246700_103246701delinsTG (hg19)
chr12:g.102852922_102852923delinsTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102852922_102852923delinsTG , CM000674.2:g.102852922_102852923delinsTG | GRCh38 |
| NC_000012.11:g.103246700_103246701delinsTG , CM000674.1:g.103246700_103246701delinsTG | GRCh37 |
| NC_000012.10:g.101770830_101770831delinsTG | NCBI36 |
| NG_008690.1:g.69680_69681delinsCA | |
| NG_008690.2:g.110488_110489delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.734_735delinsCA MANE Select | ENSP00000448059.1:p.Val245Ala | |
| ENST00000307000.7:c.719_720delinsCA | ENSP00000303500.2:p.Val240Ala | |
| ENST00000549247.6:n.493_494delinsCA | ||
| ENST00000553106.5:c.734_735delinsCA | ENSP00000448059.1:p.Val245Ala | |
| NM_000277.1:c.734_735delinsCA | NP_000268.1:p.Val245Ala | |
| XM_011538422.1:c.734_735delinsCA | XP_011536724.1:p.Val245Ala | |
| NM_000277.2:c.734_735delinsCA | NP_000268.1:p.Val245Ala | |
| NM_001354304.1:c.734_735delinsCA | NP_001341233.1:p.Val245Ala | |
| NM_000277.3:c.734_735delinsCA MANE Select | NP_000268.1:p.Val245Ala | |
| NM_001354304.2:c.734_735delinsCA | NP_001341233.1:p.Val245Ala |