Linked Data
ClinVar Variation Id:
307020
ClinVar RCV Id:
RCV000387941
dbSNP Id:
rs10623308
ExAC:
12:109992958 T / TTA
gnomAD v2:
12-109992958-T-TTA
gnomAD v3:
12-109555153-T-TTA
gnomAD v4:
12-109555153-T-TTA
MyVariant Identifiers:
chr12:g.109992959_109992960dupTA (hg19)
chr12:g.109992962_109992963insTA (hg19)
chr12:g.109992960_109992961insTA (hg19)
chr12:g.109992959_109992960insAT (hg19)
chr12:g.109992958_109992959insTA (hg19)
chr12:g.109555154_109555155dupTA (hg38)
chr12:g.109555155_109555156insTA (hg38)
chr12:g.109555154_109555155insAT (hg38)
chr12:g.109555153_109555154insTA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109555169_109555170dup , CM000674.2:g.109555169_109555170dup | GRCh38 |
| NC_000012.11:g.109992974_109992975dup , CM000674.1:g.109992974_109992975dup | GRCh37 |
| NC_000012.10:g.108477357_108477358dup | NCBI36 |
| NG_007096.1:g.23343_23344dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000545712.7:c.*1873_*1874dup MANE Select | ENSP00000445920.1:n.*1873_*1874dup | |
| ENST00000545712.6:c.*1873_*1874dup | ENSP00000445920.1:n.*1873_*1874dup | |
| NM_052845.3:c.*1873_*1874dup | NP_443077.1:n.*1873_*1874dup | |
| NR_038118.1:n.2786_2787dup | ||
| NM_052845.4:c.*1873_*1874dup MANE Select | NP_443077.1:n.*1873_*1874dup | |
| NR_038118.2:n.2737_2738dup |