Linked Data
ClinVar Variation Id:
212113
dbSNP Id:
rs797045938
MyVariant Identifiers:
chr13:g.23913897_23913898delinsAG (hg19)
chr13:g.23339758_23339759delinsAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23339758_23339759delinsAG , CM000675.2:g.23339758_23339759delinsAG | GRCh38 |
| NC_000013.10:g.23913897_23913898delinsAG , CM000675.1:g.23913897_23913898delinsAG | GRCh37 |
| NC_000013.9:g.22811897_22811898delinsAG | NCBI36 |
| NG_012342.1:g.98944_98945delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682775.1:c.2185+14026_2185+14027delinsCT | ENSP00000508399.1:n.2185+14026_2185+14027delinsCT | |
| ENST00000682944.1:c.4144_4145delinsCT | ENSP00000507173.1:p.Ala1382Leu | |
| ENST00000683210.1:c.2185+14026_2185+14027delinsCT | ENSP00000506739.1:n.2185+14026_2185+14027delinsCT | |
| ENST00000683270.1:c.4108_4109delinsCT | ENSP00000507624.1:p.Ala1370Leu | |
| ENST00000683367.1:c.2177-10275_2177-10274delinsCT | ENSP00000507780.1:n.2177-10275_2177-10274delinsCT | |
| ENST00000683489.1:c.2291+1826_2291+1827delinsCT | ENSP00000508403.1:n.2291+1826_2291+1827delinsCT | |
| ENST00000683680.1:c.2318+1826_2318+1827delinsCT | ENSP00000507223.1:n.2318+1826_2318+1827delinsCT | |
| ENST00000684163.1:c.2203+7052_2203+7053delinsCT | ENSP00000508262.1:n.2203+7052_2203+7053delinsCT | |
| ENST00000684196.1:n.4543-10275_4543-10274delinsCT | ||
| ENST00000684325.1:c.2185+14026_2185+14027delinsCT | ENSP00000508121.1:n.2185+14026_2185+14027delinsCT | |
| ENST00000684385.1:c.2220+7052_2220+7053delinsCT | ENSP00000507855.1:n.2220+7052_2220+7053delinsCT | |
| ENST00000684497.1:c.2185+14026_2185+14027delinsCT | ENSP00000507057.1:n.2185+14026_2185+14027delinsCT | |
| ENST00000382292.9:c.4117_4118delinsCT MANE Select | ENSP00000371729.3:p.Ala1373Leu | |
| ENST00000423156.2:c.2186-10275_2186-10274delinsCT | ENSP00000390925.2:n.2186-10275_2186-10274delinsCT | |
| ENST00000455470.6:c.2431+1686_2431+1687delinsCT | ENSP00000406565.2:n.2431+1686_2431+1687delinsCT | |
| ENST00000382292.7:c.4117_4118delinsCT | ENSP00000371729.3:p.Ala1373Leu | |
| ENST00000382298.7:c.4117_4118delinsCT | ENSP00000371735.3:p.Ala1373Leu | |
| ENST00000402364.1:c.1867_1868delinsCT | ENSP00000385844.1:p.Ala623Leu | |
| ENST00000423156.1:c.1058-10275_1058-10274delinsCT | ENSP00000390925.1:n.1058-10275_1058-10274delinsCT | |
| ENST00000455470.5:c.2129+1686_2129+1687delinsCT | ||
| NM_001278055.1:c.3676_3677delinsCT | NP_001264984.1:p.Ala1226Leu | |
| NM_014363.5:c.4117_4118delinsCT | NP_055178.3:p.Ala1373Leu | |
| XM_005266338.1:c.4144_4145delinsCT | XP_005266395.1:p.Ala1382Leu | |
| XM_011535038.1:c.4168_4169delinsCT | XP_011533340.1:p.Ala1390Leu | |
| XM_011535039.1:c.4135_4136delinsCT | XP_011533341.1:p.Ala1379Leu | |
| XM_005266338.2:c.4144_4145delinsCT | XP_005266395.1:p.Ala1382Leu | |
| XM_011535039.2:c.4135_4136delinsCT | XP_011533341.1:p.Ala1379Leu | |
| XM_017020539.1:c.4108_4109delinsCT | XP_016876028.1:p.Ala1370Leu | |
| XM_024449337.1:c.4144_4145delinsCT | XP_024305105.1:p.Ala1382Leu | |
| NM_014363.6:c.4117_4118delinsCT MANE Select | NP_055178.3:p.Ala1373Leu | |
| NM_001278055.2:c.3676_3677delinsCT | NP_001264984.1:p.Ala1226Leu |