Linked Data
ClinVar Variation Id:
1432293
ClinVar RCV Id:
RCV001941187
dbSNP Id:
rs2145431264
gnomAD v4:
19-1223120-C-CCTCTTCGACATCGAGGAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1223121_1223138dup , CM000681.2:g.1223121_1223138dup | GRCh38 |
| NC_000019.9:g.1223120_1223137dup , CM000681.1:g.1223120_1223137dup | GRCh37 |
| NC_000019.8:g.1174120_1174137dup | NCBI36 |
| NG_007460.2:g.38715_38732dup , LRG_319:g.38715_38732dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.1057_1074dup | ENSP00000490268.2:p.Asp358_Asp359insLeuPheAspIleGluAsp | |
| ENST00000585748.3:c.685_702dup | ENSP00000477641.2:p.Asp234_Asp235insLeuPheAspIleGluAsp | |
| ENST00000585851.2:c.883_900dup | ENSP00000467912.2:p.Asp300_Asp301insLeuPheAspIleGluAsp | |
| ENST00000326873.12:c.1057_1074dup MANE Select | ENSP00000324856.6:p.Asp358_Asp359insLeuPheAspIleGluAsp | |
| ENST00000652231.1:c.1057_1074dup | ENSP00000498804.1:p.Asp358_Asp359insLeuPheAspIleGluAsp | |
| ENST00000326873.11:c.1057_1074dup | ENSP00000324856.6:p.Asp358_Asp359insLeuPheAspIleGluAsp | |
| ENST00000586243.5:c.1057_1074dup | ENSP00000467240.2:p.Asp358_Asp359insLeuPheAspIleGluAsp | |
| ENST00000589152.5:n.1755_1772dup | ||
| NM_000455.4:c.1057_1074dup , LRG_319t1:c.1057_1074dup | NP_000446.1:p.Asp358_Asp359insLeuPheAspIleGluAsp | |
| XM_005259617.1:c.1057_1074dup | XP_005259674.1:p.Asp358_Asp359insLeuPheAspIleGluAsp | |
| XM_005259618.3:c.1057_1074dup | XP_005259675.1:p.Asp358_Asp359insLeuPheAspIleGluAsp | |
| XM_011528209.1:c.835_852dup | XP_011526511.1:p.Asp284_Asp285insLeuPheAspIleGluAsp | |
| XR_936204.1:n.1833_1850dup | ||
| XM_005259617.3:c.1057_1074dup | XP_005259674.1:p.Asp358_Asp359insLeuPheAspIleGluAsp | |
| XM_011528209.2:c.835_852dup | XP_011526511.1:p.Asp284_Asp285insLeuPheAspIleGluAsp | |
| XR_001753738.2:n.1863_1880dup | ||
| XR_001753739.1:n.1863_1880dup | ||
| XR_001753740.2:n.1833_1850dup | ||
| NM_000455.5:c.1057_1074dup MANE Select | NP_000446.1:p.Asp358_Asp359insLeuPheAspIleGluAsp |