Linked Data
dbSNP Id:
rs779313373
gnomAD v2:
9-107591112-A-AC
gnomAD v3:
9-104828831-A-AC
gnomAD v4:
9-104828831-A-AC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.104828831_104828832insC , CM000671.2:g.104828831_104828832insC | GRCh38 |
| NC_000009.11:g.107591112_107591113insC , CM000671.1:g.107591112_107591113insC | GRCh37 |
| NC_000009.10:g.106630933_106630934insC | NCBI36 |
| NG_007981.1:g.104324_104325insG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.2115+84_2115+85insG MANE Select | ENSP00000363868.3:n.2115+84_2115+85insG | |
| ENST00000678995.1:c.2115+84_2115+85insG | ENSP00000504612.1:n.2115+84_2115+85insG | |
| ENST00000374736.7:c.2115+84_2115+85insG | ENSP00000363868.3:n.2115+84_2115+85insG | |
| ENST00000494467.1:n.288+84_288+85insG | ||
| NM_005502.3:c.2115+84_2115+85insG | NP_005493.2:n.2115+84_2115+85insG | |
| XM_005251773.1:c.2115+84_2115+85insG | XP_005251830.1:n.2115+84_2115+85insG | |
| XM_005251776.1:c.1935+84_1935+85insG | XP_005251833.1:n.1935+84_1935+85insG | |
| XM_011518339.1:c.2190+84_2190+85insG | XP_011516641.1:n.2190+84_2190+85insG | |
| XM_011518340.1:c.2190+84_2190+85insG | XP_011516642.1:n.2190+84_2190+85insG | |
| XM_011518341.1:c.2190+84_2190+85insG | XP_011516643.1:n.2190+84_2190+85insG | |
| XM_011518342.1:c.1752+84_1752+85insG | XP_011516644.1:n.1752+84_1752+85insG | |
| XM_011518343.1:c.2190+84_2190+85insG | XP_011516645.1:n.2190+84_2190+85insG | |
| XM_011518344.1:c.2190+84_2190+85insG | XP_011516646.1:n.2190+84_2190+85insG | |
| XM_005251773.3:c.2115+84_2115+85insG | XP_005251830.1:n.2115+84_2115+85insG | |
| XM_005251776.3:c.1935+84_1935+85insG | XP_005251833.1:n.1935+84_1935+85insG | |
| XM_011518339.3:c.2190+84_2190+85insG | XP_011516641.1:n.2190+84_2190+85insG | |
| XM_011518340.3:c.2190+84_2190+85insG | XP_011516642.1:n.2190+84_2190+85insG | |
| XM_011518341.3:c.2190+84_2190+85insG | XP_011516643.1:n.2190+84_2190+85insG | |
| XM_011518342.3:c.1752+84_1752+85insG | XP_011516644.1:n.1752+84_1752+85insG | |
| XM_011518344.2:c.2190+84_2190+85insG | XP_011516646.1:n.2190+84_2190+85insG | |
| XM_017014378.2:c.2190+84_2190+85insG | XP_016869867.1:n.2190+84_2190+85insG | |
| XM_017014379.2:c.2190+84_2190+85insG | XP_016869868.1:n.2190+84_2190+85insG | |
| XM_017014380.2:c.2190+84_2190+85insG | XP_016869869.1:n.2190+84_2190+85insG | |
| XM_017014381.2:c.2190+84_2190+85insG | XP_016869870.1:n.2190+84_2190+85insG | |
| XM_017014382.2:c.2052+84_2052+85insG | XP_016869871.1:n.2052+84_2052+85insG | |
| XR_001746223.1:n.2503+84_2503+85insG | ||
| NM_005502.4:c.2115+84_2115+85insG MANE Select | NP_005493.2:n.2115+84_2115+85insG |