Linked Data
ClinVar Variation Id:
801417
dbSNP Id:
rs1449036579
gnomAD v2:
19-10251513-C-CGCAGCTTGG
gnomAD v4:
19-10140837-C-CGCAGCTTGG
MyVariant Identifiers:
chr19:g.10251513_10251514insGCAGCTTGG (hg19)
chr19:g.10140837_10140838insGCAGCTTGG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10140846_10140854dup , CM000681.2:g.10140846_10140854dup | GRCh38 |
| NC_000019.9:g.10251522_10251530dup , CM000681.1:g.10251522_10251530dup | GRCh37 |
| NC_000019.8:g.10112522_10112530dup | NCBI36 |
| NG_028016.3:g.95441_95449dup , LRG_362:g.95441_95449dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.3458_3466dup MANE Select | ENSP00000352516.3:p.Leu1155_Arg1156insProLysLeu | |
| ENST00000586667.2:n.1493_1501dup | ||
| ENST00000589351.6:n.894_902dup | ||
| ENST00000676604.1:n.3070_3078dup | ||
| ENST00000676610.1:c.3410_3418dup | ENSP00000504236.1:p.Leu1139_Arg1140insProLysLeu | |
| ENST00000676820.1:n.4304_4312dup | ||
| ENST00000676868.1:n.4094_4102dup | ||
| ENST00000677013.1:c.*3100_*3108dup | ENSP00000503135.1:n.*3100_*3108dup | |
| ENST00000677250.1:c.*2530_*2538dup | ENSP00000502894.1:n.*2530_*2538dup | |
| ENST00000677616.1:c.3101_3109dup | ENSP00000503055.1:p.Leu1036_Arg1037insProLysLeu | |
| ENST00000677634.1:c.*13_*21dup | ENSP00000504246.1:n.*13_*21dup | |
| ENST00000677685.1:c.*2635_*2643dup | ENSP00000503407.1:n.*2635_*2643dup | |
| ENST00000677783.1:n.4718_4726dup | ||
| ENST00000677946.1:c.3410_3418dup | ENSP00000504202.1:p.Leu1139_Arg1140insProLysLeu | |
| ENST00000678024.1:n.4391_4399dup | ||
| ENST00000678647.1:n.1543_1551dup | ||
| ENST00000678694.1:n.2731_2739dup | ||
| ENST00000678804.1:c.3410_3418dup | ENSP00000503853.1:p.Leu1139_Arg1140insProLysLeu | |
| ENST00000678957.1:n.894_902dup | ||
| ENST00000679100.1:n.1597_1605dup | ||
| ENST00000679103.1:c.3410_3418dup | ENSP00000503151.1:p.Leu1139_Arg1140insProLysLeu | |
| ENST00000679313.1:c.3410_3418dup | ENSP00000504512.1:p.Leu1139_Arg1140insProLysLeu | |
| ENST00000340748.8:c.3410_3418dup | ENSP00000345739.3:p.Leu1139_Arg1140insProLysLeu | |
| ENST00000359526.8:c.3458_3466dup | ENSP00000352516.3:p.Leu1155_Arg1156insProLysLeu | |
| ENST00000540357.5:c.2402_2410dup | ENSP00000440457.2:p.Leu803_Arg804insProLysLeu | |
| ENST00000586588.5:n.1331_1339dup | ||
| ENST00000587604.1:n.196_204dup | ||
| ENST00000589091.1:n.406_414dup | ||
| ENST00000589351.5:n.532_540dup | ||
| ENST00000589538.5:n.478_486dup | ||
| ENST00000592705.5:c.*3148_*3156dup | ENSP00000466657.1:n.*3148_*3156dup | |
| ENST00000593049.5:n.420_428dup | ||
| NM_001130823.1:c.3458_3466dup , LRG_362t1:c.3458_3466dup | NP_001124295.1:p.Leu1155_Arg1156insProLysLeu | |
| NM_001379.2:c.3410_3418dup | NP_001370.1:p.Leu1139_Arg1140insProLysLeu | |
| XM_011527772.1:c.3458_3466dup | XP_011526074.1:p.Leu1155_Arg1156insProLysLeu | |
| XM_011527773.1:c.3410_3418dup | XP_011526075.1:p.Leu1139_Arg1140insProLysLeu | |
| XM_011527774.1:c.3047_3055dup | XP_011526076.1:p.Leu1018_Arg1019insProLysLeu | |
| NM_001130823.2:c.3458_3466dup | NP_001124295.1:p.Leu1155_Arg1156insProLysLeu | |
| NM_001318730.1:c.3410_3418dup | NP_001305659.1:p.Leu1139_Arg1140insProLysLeu | |
| NM_001318731.1:c.3095_3103dup | NP_001305660.1:p.Leu1034_Arg1035insProLysLeu | |
| NM_001379.3:c.3410_3418dup | NP_001370.1:p.Leu1139_Arg1140insProLysLeu | |
| NM_001130823.3:c.3458_3466dup MANE Select | NP_001124295.1:p.Leu1155_Arg1156insProLysLeu | |
| NM_001318730.2:c.3410_3418dup | NP_001305659.1:p.Leu1139_Arg1140insProLysLeu | |
| NM_001318731.2:c.3095_3103dup | NP_001305660.1:p.Leu1034_Arg1035insProLysLeu | |
| NM_001379.4:c.3410_3418dup | NP_001370.1:p.Leu1139_Arg1140insProLysLeu |