Linked Data
ClinVar Variation Id:
2894821
ClinVar RCV Id:
RCV003756782
dbSNP Id:
rs745691492
ExAC:
19:39070782 C / CAGG
gnomAD v2:
19-39070782-C-CAGG
gnomAD v4:
19-38580142-C-CAGG
MyVariant Identifiers:
chr19:g.39070782_39070783insAGG (hg19)
chr19:g.38580142_38580143insAGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38580142_38580143insAGG , CM000681.2:g.38580142_38580143insAGG | GRCh38 |
| NC_000019.9:g.39070782_39070783insAGG , CM000681.1:g.39070782_39070783insAGG | GRCh37 |
| NC_000019.8:g.43762622_43762623insAGG | NCBI36 |
| NG_008866.1:g.151443_151444insAGG , LRG_766:g.151443_151444insAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593677.2:c.1447+14_1447+15insAGG | ||
| ENST00000688602.1:c.2844+14_2844+15insAGG | ||
| ENST00000689936.1:c.2816+14_2816+15insAGG | ||
| ENST00000359596.8:c.14511+14_14511+15insAGG MANE Select | ENSP00000352608.2:n.14511+14_14511+15insAGG | |
| ENST00000355481.8:c.14496+14_14496+15insAGG | ENSP00000347667.3:n.14496+14_14496+15insAGG | |
| ENST00000359596.7:c.14511+14_14511+15insAGG | ENSP00000352608.2:n.14511+14_14511+15insAGG | |
| ENST00000360985.7:c.14493+14_14493+15insAGG | ENSP00000354254.4:n.14493+14_14493+15insAGG | |
| NM_000540.2:c.14511+14_14511+15insAGG , LRG_766t1:c.14511+14_14511+15insAGG | NP_000531.2:n.14511+14_14511+15insAGG | |
| NM_001042723.1:c.14496+14_14496+15insAGG | NP_001036188.1:n.14496+14_14496+15insAGG | |
| XM_006723317.1:c.14493+14_14493+15insAGG | XP_006723380.1:n.14493+14_14493+15insAGG | |
| XM_006723319.1:c.14478+14_14478+15insAGG | XP_006723382.1:n.14478+14_14478+15insAGG | |
| XM_011527204.1:c.14508+14_14508+15insAGG | XP_011525506.1:n.14508+14_14508+15insAGG | |
| XM_011527205.1:c.14424+14_14424+15insAGG | XP_011525507.1:n.14424+14_14424+15insAGG | |
| XM_006723317.2:c.14493+14_14493+15insAGG | XP_006723380.1:n.14493+14_14493+15insAGG | |
| XM_006723319.2:c.14478+14_14478+15insAGG | XP_006723382.1:n.14478+14_14478+15insAGG | |
| XM_011527205.2:c.14424+14_14424+15insAGG | XP_011525507.1:n.14424+14_14424+15insAGG | |
| NM_000540.3:c.14511+14_14511+15insAGG MANE Select | NP_000531.2:n.14511+14_14511+15insAGG | |
| NM_001042723.2:c.14496+14_14496+15insAGG | NP_001036188.1:n.14496+14_14496+15insAGG |