Linked Data
dbSNP Id:
rs1428725409
MyVariant Identifiers:
chr11:g.126215384_126215385insGCA (hg19)
chr11:g.126345489_126345490insGCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.126345491_126345492insAGC , CM000673.2:g.126345491_126345492insAGC | GRCh38 |
| NC_000011.9:g.126215386_126215387insAGC , CM000673.1:g.126215386_126215387insAGC | GRCh37 |
| NC_000011.8:g.125720596_125720597insAGC | NCBI36 |
| NG_053153.1:g.47191_47192insAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263579.5:c.892_893insAGC (DCPS) MANE Select | ENSP00000263579.4:p.Leu297_Leu298insGln | |
| ENST00000648516.1:c.613_614insAGC (DCPS) | ENSP00000497684.1:p.Leu204_Leu205insGln | |
| ENST00000263579.4:c.892_893insAGC (DCPS) | ENSP00000263579.4:p.Leu297_Leu298insGln | |
| ENST00000529149.1:n.2242_2243insAGC (DCPS) | ||
| ENST00000530860.5:n.403_404insAGC (DCPS) | ||
| NM_014026.4:c.892_893insAGC (DCPS) | NP_054745.1:p.Leu297_Leu298insGln | |
| NR_033839.1:n.147-3168_147-3167insTGC (GSEC) | ||
| XM_011542778.1:c.913_914insAGC (DCPS) | XP_011541080.1:p.Leu304_Leu305insGln | |
| XM_011542779.1:c.613_614insAGC (DCPS) | XP_011541081.1:p.Leu204_Leu205insGln | |
| XM_011542780.1:c.613_614insAGC (DCPS) | XP_011541082.1:p.Leu204_Leu205insGln | |
| NM_001350236.1:c.913_914insAGC (DCPS) | NP_001337165.1:p.Leu304_Leu305insGln | |
| NM_014026.5:c.892_893insAGC (DCPS) | NP_054745.1:p.Leu297_Leu298insGln | |
| NM_014026.6:c.892_893insAGC (DCPS) MANE Select | NP_054745.1:p.Leu297_Leu298insGln | |
| NM_001350236.2:c.913_914insAGC (DCPS) | NP_001337165.1:p.Leu304_Leu305insGln |