Linked Data
ClinVar Variation Id:
219441
dbSNP Id:
rs864622091
MyVariant Identifiers:
chr19:g.1226608_1226609delinsCC (hg19)
chr19:g.1226609_1226610delinsCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1226609_1226610delinsCC , CM000681.2:g.1226609_1226610delinsCC | GRCh38 |
| NC_000019.9:g.1226608_1226609delinsCC , CM000681.1:g.1226608_1226609delinsCC | GRCh37 |
| NC_000019.8:g.1177608_1177609delinsCC | NCBI36 |
| NG_007460.2:g.42203_42204delinsCC , LRG_319:g.42203_42204delinsCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000585465.3:c.*2865_*2866delinsCC | ENSP00000490268.2:n.*2865_*2866delinsCC | |
| ENST00000585748.3:c.892_893delinsCC | ENSP00000477641.2:p.Ser298Pro | |
| ENST00000585851.2:c.1090_1091delinsCC | ENSP00000467912.2:p.Ser364Pro | |
| ENST00000326873.12:c.1264_1265delinsCC MANE Select | ENSP00000324856.6:p.Ser422Pro | |
| ENST00000326873.11:c.1264_1265delinsCC | ENSP00000324856.6:p.Ser422Pro | |
| ENST00000585465.2:n.2997_2998delinsCC | ||
| ENST00000586243.5:c.1261_1262delinsCC | ENSP00000467240.2:p.Ser421Pro | |
| ENST00000589152.5:n.1962_1963delinsCC | ||
| NM_000455.4:c.1264_1265delinsCC , LRG_319t1:c.1264_1265delinsCC | NP_000446.1:p.Ser422Pro | |
| XM_005259617.1:c.1259_1260delinsCC | XP_005259674.1:p.Gln420Pro | |
| XM_011528209.1:c.1037_1038delinsCC | XP_011526511.1:p.Gln346Pro | |
| XM_005259617.3:c.1259_1260delinsCC | XP_005259674.1:p.Gln420Pro | |
| XM_011528209.2:c.1037_1038delinsCC | XP_011526511.1:p.Gln346Pro | |
| XR_001753738.2:n.2070_2071delinsCC | ||
| XR_001753740.2:n.2040_2041delinsCC | ||
| NM_000455.5:c.1264_1265delinsCC MANE Select | NP_000446.1:p.Ser422Pro |