Linked Data
dbSNP Id:
rs1568506367
gnomAD v2:
19-38993414-C-CAGGGGG
gnomAD v3:
19-38502774-C-CAGGGGG
gnomAD v4:
19-38502774-C-CAGGGGG
MyVariant Identifiers:
chr19:g.38993414_38993415insAGGGGG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38502779_38502780insGAGGGG , CM000681.2:g.38502779_38502780insGAGGGG | GRCh38 |
| NC_000019.9:g.38993419_38993420insGAGGGG , CM000681.1:g.38993419_38993420insGAGGGG | GRCh37 |
| NC_000019.8:g.43685259_43685260insGAGGGG | NCBI36 |
| NG_008866.1:g.74080_74081insGAGGGG , LRG_766:g.74080_74081insGAGGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7835+52_7835+53insGAGGGG | ENSP00000471601.2:n.7835+52_7835+53insGAGGGG | |
| ENST00000359596.8:c.7835+52_7835+53insGAGGGG MANE Select | ENSP00000352608.2:n.7835+52_7835+53insGAGGGG | |
| ENST00000355481.8:c.7835+52_7835+53insGAGGGG | ENSP00000347667.3:n.7835+52_7835+53insGAGGGG | |
| ENST00000359596.7:c.7835+52_7835+53insGAGGGG | ENSP00000352608.2:n.7835+52_7835+53insGAGGGG | |
| ENST00000360985.7:c.7832+52_7832+53insGAGGGG | ENSP00000354254.4:n.7832+52_7832+53insGAGGGG | |
| ENST00000594335.5:c.1287+52_1287+53insGAGGGG | ||
| NM_000540.2:c.7835+52_7835+53insGAGGGG , LRG_766t1:c.7835+52_7835+53insGAGGGG | NP_000531.2:n.7835+52_7835+53insGAGGGG | |
| NM_001042723.1:c.7835+52_7835+53insGAGGGG | NP_001036188.1:n.7835+52_7835+53insGAGGGG | |
| XM_006723317.1:c.7835+52_7835+53insGAGGGG | XP_006723380.1:n.7835+52_7835+53insGAGGGG | |
| XM_006723319.1:c.7835+52_7835+53insGAGGGG | XP_006723382.1:n.7835+52_7835+53insGAGGGG | |
| XM_011527204.1:c.7832+52_7832+53insGAGGGG | XP_011525506.1:n.7832+52_7832+53insGAGGGG | |
| XM_011527205.1:c.7835+52_7835+53insGAGGGG | XP_011525507.1:n.7835+52_7835+53insGAGGGG | |
| XM_006723317.2:c.7835+52_7835+53insGAGGGG | XP_006723380.1:n.7835+52_7835+53insGAGGGG | |
| XM_006723319.2:c.7835+52_7835+53insGAGGGG | XP_006723382.1:n.7835+52_7835+53insGAGGGG | |
| XM_011527205.2:c.7835+52_7835+53insGAGGGG | XP_011525507.1:n.7835+52_7835+53insGAGGGG | |
| XR_001753735.1:n.7918+52_7918+53insGAGGGG | ||
| NM_000540.3:c.7835+52_7835+53insGAGGGG MANE Select | NP_000531.2:n.7835+52_7835+53insGAGGGG | |
| NM_001042723.2:c.7835+52_7835+53insGAGGGG | NP_001036188.1:n.7835+52_7835+53insGAGGGG |