Linked Data
ClinVar Variation Id:
947970
ClinVar RCV Id:
RCV001219135
dbSNP Id:
rs750792592
gnomAD v4:
10-62814041-A-AGAG
MyVariant Identifiers:
chr10:g.64573801_64573802insGAG (hg19)
chr10:g.62814041_62814042insGAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.62814044_62814046dup , CM000672.2:g.62814044_62814046dup | GRCh38 |
| NC_000010.10:g.64573804_64573806dup , CM000672.1:g.64573804_64573806dup | GRCh37 |
| NC_000010.9:g.64243810_64243812dup | NCBI36 |
| NG_008936.2:g.110857_110859dup , LRG_239:g.110857_110859dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000411732.4:c.444_446dup | ENSP00000387634.1:p.Ser149_Leu150insSer | |
| ENST00000439032.6:c.1134_1136dup | ENSP00000509775.1:n.1134_1136dup | |
| ENST00000637191.2:c.594_596dup | ENSP00000490154.2:p.Ser199_Leu200insSer | |
| ENST00000690143.1:c.*526_*528dup | ENSP00000510306.1:n.*526_*528dup | |
| ENST00000691610.1:c.633_635dup | ENSP00000509830.1:p.Ser212_Leu213insSer | |
| ENST00000242480.4:c.594_596dup MANE Select | ENSP00000242480.3:p.Ser199_Leu200insSer | |
| ENST00000411732.3:c.444_446dup | ENSP00000387634.1:p.Ser149_Leu150insSer | |
| ENST00000639815.1:n.109-1082_109-1080dup | ||
| ENST00000242480.3:c.594_596dup | ENSP00000242480.3:p.Ser199_Leu200insSer | |
| ENST00000411732.2:c.444_446dup | ENSP00000387634.1:p.Ser149_Leu150insSer | |
| ENST00000439032.4:c.594_596dup | ENSP00000402040.1:p.Ser199_Leu200insSer | |
| NM_000399.3:c.594_596dup , LRG_239t1:c.594_596dup | NP_000390.2:p.Ser199_Leu200insSer | |
| NM_001136177.1:c.594_596dup | NP_001129649.1:p.Ser199_Leu200insSer | |
| NM_001136178.1:c.594_596dup | NP_001129650.1:p.Ser199_Leu200insSer | |
| NM_001136179.1:c.444_446dup | NP_001129651.1:p.Ser149_Leu150insSer | |
| XM_011539427.1:c.633_635dup | XP_011537729.1:p.Ser212_Leu213insSer | |
| XM_011539428.1:c.444_446dup | XP_011537730.1:p.Ser149_Leu150insSer | |
| XM_011539429.1:c.444_446dup | XP_011537731.1:p.Ser149_Leu150insSer | |
| NM_000399.4:c.594_596dup | NP_000390.2:p.Ser199_Leu200insSer | |
| NM_001136177.2:c.594_596dup | NP_001129649.1:p.Ser199_Leu200insSer | |
| NM_001136179.2:c.444_446dup | NP_001129651.1:p.Ser149_Leu150insSer | |
| NM_001321037.1:c.444_446dup | NP_001307966.1:p.Ser149_Leu150insSer | |
| NM_000399.5:c.594_596dup MANE Select | NP_000390.2:p.Ser199_Leu200insSer | |
| NM_001136177.3:c.594_596dup | NP_001129649.1:p.Ser199_Leu200insSer | |
| NM_001136179.3:c.444_446dup | NP_001129651.1:p.Ser149_Leu150insSer | |
| NM_001321037.2:c.444_446dup | NP_001307966.1:p.Ser149_Leu150insSer | |
| NM_001136178.2:c.594_596dup | NP_001129650.1:p.Ser199_Leu200insSer |