Linked Data
ClinVar Variation Id:
210686
ClinVar RCV Id:
RCV000192978
dbSNP Id:
rs869312853
MyVariant Identifiers:
chr15:g.49048430_49048431delinsA (hg19)
chr15:g.48756233_48756234delinsA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48756233_48756234delinsA , CM000677.2:g.48756233_48756234delinsA | GRCh38 |
| NC_000015.9:g.49048430_49048431delinsA , CM000677.1:g.49048430_49048431delinsA | GRCh37 |
| NC_000015.8:g.46835722_46835723delinsA | NCBI36 |
| NG_027518.1:g.59913_59914delinsT | |
| NG_027518.2:g.59913_59914delinsT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380950.7:c.3014_3015delinsT MANE Select | ENSP00000370337.2:p.Lys1005IlefsTer16 | |
| ENST00000325747.9:c.2735_2736delinsT | ENSP00000321000.5:p.Lys912IlefsTer16 | |
| ENST00000380950.6:c.3014_3015delinsT | ENSP00000370337.2:p.Lys1005IlefsTer16 | |
| ENST00000399334.7:c.3014_3015delinsT | ENSP00000382271.3:p.Lys1005IlefsTer16 | |
| NM_001194998.1:c.3014_3015delinsT | NP_001181927.1:p.Lys1005IlefsTer16 | |
| NM_014985.3:c.3014_3015delinsT | NP_055800.2:p.Lys1005IlefsTer16 | |
| XM_006720437.2:c.3014_3015delinsT | XP_006720500.1:p.Lys1005IlefsTer16 | |
| XM_011521373.1:c.3014_3015delinsT | XP_011519675.1:p.Lys1005IlefsTer16 | |
| XM_011521374.1:c.3014_3015delinsT | XP_011519676.1:p.Lys1005IlefsTer16 | |
| XM_011521375.1:c.3014_3015delinsT | XP_011519677.1:p.Lys1005IlefsTer16 | |
| XM_011521376.1:c.3014_3015delinsT | XP_011519678.1:p.Lys1005IlefsTer16 | |
| XM_011521377.1:c.3014_3015delinsT | XP_011519679.1:p.Lys1005IlefsTer16 | |
| XM_011521378.1:c.3014_3015delinsT | XP_011519680.1:p.Lys1005IlefsTer16 | |
| XM_011521379.1:c.3014_3015delinsT | XP_011519681.1:p.Lys1005IlefsTer16 | |
| XM_011521380.1:c.1055_1056delinsT | XP_011519682.1:p.Lys352IlefsTer16 | |
| XM_011521381.1:c.1049_1050delinsT | XP_011519683.1:p.Lys350IlefsTer16 | |
| XR_931769.1:n.3979_3980delinsT | ||
| XR_931770.1:n.3979_3980delinsT | ||
| XR_931771.1:n.3979_3980delinsT | ||
| XR_931772.1:n.3979_3980delinsT | ||
| XR_931773.1:n.3979_3980delinsT | ||
| XR_931774.1:n.3979_3980delinsT | ||
| XR_931775.1:n.3979_3980delinsT | ||
| XM_006720437.3:c.3014_3015delinsT | XP_006720500.1:p.Lys1005IlefsTer16 | |
| XM_011521373.3:c.3014_3015delinsT | XP_011519675.1:p.Lys1005IlefsTer16 | |
| XM_011521374.3:c.3014_3015delinsT | XP_011519676.1:p.Lys1005IlefsTer16 | |
| XM_011521375.3:c.3014_3015delinsT | XP_011519677.1:p.Lys1005IlefsTer16 | |
| XM_011521378.3:c.3014_3015delinsT | XP_011519680.1:p.Lys1005IlefsTer16 | |
| XM_011521379.3:c.3014_3015delinsT | XP_011519681.1:p.Lys1005IlefsTer16 | |
| XM_011521381.2:c.1049_1050delinsT | XP_011519683.1:p.Lys350IlefsTer16 | |
| XM_017022015.1:c.1049_1050delinsT | XP_016877504.1:p.Lys350IlefsTer16 | |
| XM_024449875.1:c.3014_3015delinsT | XP_024305643.1:p.Lys1005IlefsTer16 | |
| XR_001751153.2:n.3965_3966delinsT | ||
| XR_931769.3:n.3965_3966delinsT | ||
| XR_931770.3:n.3965_3966delinsT | ||
| XR_931775.3:n.3965_3966delinsT | ||
| NM_001194998.2:c.3014_3015delinsT MANE Select | NP_001181927.1:p.Lys1005IlefsTer16 | |
| NM_014985.4:c.3014_3015delinsT | NP_055800.2:p.Lys1005IlefsTer16 |