Linked Data
ClinVar Variation Id:
35782
ClinVar RCV Id:
RCV002295274
dbSNP Id:
rs193922427
MyVariant Identifiers:
chr3:g.122001036_122001037delinsCT (hg19)
chr3:g.122282189_122282190delinsCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.122282189_122282190delinsCT , CM000665.2:g.122282189_122282190delinsCT | GRCh38 |
| NC_000003.11:g.122001036_122001037delinsCT , CM000665.1:g.122001036_122001037delinsCT | GRCh37 |
| NC_000003.10:g.123483726_123483727delinsCT | NCBI36 |
| NG_009058.1:g.103507_103508delinsCT | |
| NG_009058.2:g.103522_103523delinsCT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000490131.7:c.1454_1455delinsCT | ENSP00000418685.2:p.Cys485Ser | |
| ENST00000498619.4:c.1715_1716delinsCT | ENSP00000420194.1:p.Cys572Ser | |
| ENST00000638421.1:c.1685_1686delinsCT | ENSP00000492190.1:p.Cys562Ser | |
| ENST00000639785.2:c.1685_1686delinsCT MANE Select | ENSP00000491584.2:p.Cys562Ser | |
| ENST00000490131.5:c.1685_1686delinsCT | ENSP00000418685.1:p.Cys562Ser | |
| ENST00000498619.2:c.1715_1716delinsCT | ENSP00000420194.1:p.Cys572Ser | |
| NM_000388.3:c.1685_1686delinsCT | NP_000379.2:p.Cys562Ser | |
| NM_001178065.1:c.1715_1716delinsCT | NP_001171536.1:p.Cys572Ser | |
| XM_005247836.2:c.1685_1686delinsCT | XP_005247893.1:p.Cys562Ser | |
| XM_005247837.2:c.1202_1203delinsCT | XP_005247894.1:p.Cys401Ser | |
| XM_006713789.2:c.1685_1686delinsCT | XP_006713852.1:p.Cys562Ser | |
| XM_011513237.1:c.1685_1686delinsCT | XP_011511539.1:p.Cys562Ser | |
| XM_011513238.1:c.1685_1686delinsCT | XP_011511540.1:p.Cys562Ser | |
| XM_011513239.1:c.1097_1098delinsCT | XP_011511541.1:p.Cys366Ser | |
| XM_006713789.3:c.1685_1686delinsCT | XP_006713852.1:p.Cys562Ser | |
| XM_017007324.1:c.1685_1686delinsCT | XP_016862813.1:p.Cys562Ser | |
| XM_017007325.1:c.1685_1686delinsCT | XP_016862814.1:p.Cys562Ser | |
| NM_000388.4:c.1685_1686delinsCT MANE Select | NP_000379.3:p.Cys562Ser | |
| NM_001178065.2:c.1715_1716delinsCT | NP_001171536.2:p.Cys572Ser |