Linked Data
dbSNP Id:
rs1278351140
gnomAD v2:
13-23914720-T-TC
gnomAD v3:
13-23340581-T-TC
gnomAD v4:
13-23340581-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23340581_23340582insC , CM000675.2:g.23340581_23340582insC | GRCh38 |
| NC_000013.10:g.23914720_23914721insC , CM000675.1:g.23914720_23914721insC | GRCh37 |
| NC_000013.9:g.22812720_22812721insC | NCBI36 |
| NG_012342.1:g.98121_98122insG |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682775.1:c.2185+13203_2185+13204insG | ENSP00000508399.1:n.2185+13203_2185+13204... | |
| ENST00000682944.1:c.3321_3322insG | ENSP00000507173.1:p.Lys1108GlufsTer13 | |
| ENST00000683210.1:c.2185+13203_2185+13204insG | ENSP00000506739.1:n.2185+13203_2185+13204... | |
| ENST00000683270.1:c.3285_3286insG | ENSP00000507624.1:p.Lys1096GlufsTer13 | |
| ENST00000683367.1:c.2177-11098_2177-11097insG | ENSP00000507780.1:n.2177-11098_2177-11097... | |
| ENST00000683489.1:c.2291+1003_2291+1004insG | ENSP00000508403.1:n.2291+1003_2291+1004in... | |
| ENST00000683680.1:c.2318+1003_2318+1004insG | ENSP00000507223.1:n.2318+1003_2318+1004in... | |
| ENST00000684163.1:c.2203+6229_2203+6230insG | ENSP00000508262.1:n.2203+6229_2203+6230in... | |
| ENST00000684196.1:n.4543-11098_4543-11097insG | ||
| ENST00000684325.1:c.2185+13203_2185+13204insG | ENSP00000508121.1:n.2185+13203_2185+13204... | |
| ENST00000684385.1:c.2220+6229_2220+6230insG | ENSP00000507855.1:n.2220+6229_2220+6230in... | |
| ENST00000684497.1:c.2185+13203_2185+13204insG | ENSP00000507057.1:n.2185+13203_2185+13204... | |
| ENST00000382292.9:c.3294_3295insG MANE Select | ENSP00000371729.3:p.Lys1099GlufsTer13 | |
| ENST00000423156.2:c.2186-11098_2186-11097insG | ENSP00000390925.2:n.2186-11098_2186-11097... | |
| ENST00000455470.6:c.2431+863_2431+864insG | ENSP00000406565.2:n.2431+863_2431+864insG... | |
| ENST00000382292.7:c.3294_3295insG | ENSP00000371729.3:p.Lys1099GlufsTer13 | |
| ENST00000382298.7:c.3294_3295insG | ENSP00000371735.3:p.Lys1099GlufsTer13 | |
| ENST00000402364.1:c.1044_1045insG | ENSP00000385844.1:p.Lys349GlufsTer13 | |
| ENST00000423156.1:c.1058-11098_1058-11097insG | ENSP00000390925.1:n.1058-11098_1058-11097... | |
| ENST00000455470.5:c.2129+863_2129+864insG | ||
| NM_001278055.1:c.2853_2854insG | NP_001264984.1:p.Lys952GlufsTer13 | |
| NM_014363.5:c.3294_3295insG | NP_055178.3:p.Lys1099GlufsTer13 | |
| XM_005266338.1:c.3321_3322insG | XP_005266395.1:p.Lys1108GlufsTer13 | |
| XM_011535038.1:c.3345_3346insG | XP_011533340.1:p.Lys1116GlufsTer13 | |
| XM_011535039.1:c.3312_3313insG | XP_011533341.1:p.Lys1105GlufsTer13 | |
| XM_005266338.2:c.3321_3322insG | XP_005266395.1:p.Lys1108GlufsTer13 | |
| XM_011535039.2:c.3312_3313insG | XP_011533341.1:p.Lys1105GlufsTer13 | |
| XM_017020539.1:c.3285_3286insG | XP_016876028.1:p.Lys1096GlufsTer13 | |
| XM_024449337.1:c.3321_3322insG | XP_024305105.1:p.Lys1108GlufsTer13 | |
| NM_014363.6:c.3294_3295insG MANE Select | NP_055178.3:p.Lys1099GlufsTer13 | |
| NM_001278055.2:c.2853_2854insG | NP_001264984.1:p.Lys952GlufsTer13 |