Linked Data
dbSNP Id:
rs1970241635
gnomAD v3:
19-38502816-C-CAGGGAGAGGGGG
gnomAD v4:
19-38502816-C-CAGGGAGAGGGGG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.38502820_38502821insAGAGGGGGAGGG , CM000681.2:g.38502820_38502821insAGAGGGGGAGGG | GRCh38 |
| NC_000019.9:g.38993460_38993461insAGAGGGGGAGGG , CM000681.1:g.38993460_38993461insAGAGGGGGAGGG | GRCh37 |
| NC_000019.8:g.43685300_43685301insAGAGGGGGAGGG | NCBI36 |
| NG_008866.1:g.74121_74122insAGAGGGGGAGGG , LRG_766:g.74121_74122insAGAGGGGGAGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000599547.6:c.7836-60_7836-59insAGAGGGGGAGGG | ENSP00000471601.2:n.7836-60_7836-59insAGAGGGGGAGGG | |
| ENST00000359596.8:c.7836-60_7836-59insAGAGGGGGAGGG MANE Select | ENSP00000352608.2:n.7836-60_7836-59insAGAGGGGGAGGG | |
| ENST00000355481.8:c.7836-60_7836-59insAGAGGGGGAGGG | ENSP00000347667.3:n.7836-60_7836-59insAGAGGGGGAGGG | |
| ENST00000359596.7:c.7836-60_7836-59insAGAGGGGGAGGG | ENSP00000352608.2:n.7836-60_7836-59insAGAGGGGGAGGG | |
| ENST00000360985.7:c.7833-60_7833-59insAGAGGGGGAGGG | ENSP00000354254.4:n.7833-60_7833-59insAGAGGGGGAGGG | |
| ENST00000594335.5:c.1288-60_1288-59insAGAGGGGGAGGG | ||
| NM_000540.2:c.7836-60_7836-59insAGAGGGGGAGGG , LRG_766t1:c.7836-60_7836-59insAGAGGGGGAGGG | NP_000531.2:n.7836-60_7836-59insAGAGGGGGAGGG | |
| NM_001042723.1:c.7836-60_7836-59insAGAGGGGGAGGG | NP_001036188.1:n.7836-60_7836-59insAGAGGGGGAGGG | |
| XM_006723317.1:c.7836-60_7836-59insAGAGGGGGAGGG | XP_006723380.1:n.7836-60_7836-59insAGAGGGGGAGGG | |
| XM_006723319.1:c.7836-60_7836-59insAGAGGGGGAGGG | XP_006723382.1:n.7836-60_7836-59insAGAGGGGGAGGG | |
| XM_011527204.1:c.7833-60_7833-59insAGAGGGGGAGGG | XP_011525506.1:n.7833-60_7833-59insAGAGGGGGAGGG | |
| XM_011527205.1:c.7836-60_7836-59insAGAGGGGGAGGG | XP_011525507.1:n.7836-60_7836-59insAGAGGGGGAGGG | |
| XM_006723317.2:c.7836-60_7836-59insAGAGGGGGAGGG | XP_006723380.1:n.7836-60_7836-59insAGAGGGGGAGGG | |
| XM_006723319.2:c.7836-60_7836-59insAGAGGGGGAGGG | XP_006723382.1:n.7836-60_7836-59insAGAGGGGGAGGG | |
| XM_011527205.2:c.7836-60_7836-59insAGAGGGGGAGGG | XP_011525507.1:n.7836-60_7836-59insAGAGGGGGAGGG | |
| XR_001753735.1:n.7919-60_7919-59insAGAGGGGGAGGG | ||
| NM_000540.3:c.7836-60_7836-59insAGAGGGGGAGGG MANE Select | NP_000531.2:n.7836-60_7836-59insAGAGGGGGAGGG | |
| NM_001042723.2:c.7836-60_7836-59insAGAGGGGGAGGG | NP_001036188.1:n.7836-60_7836-59insAGAGGGGGAGGG |