Linked Data
ClinVar Variation Id:
505743
ClinVar RCV Id:
RCV000604778
dbSNP Id:
rs1555446762
MyVariant Identifiers:
chr15:g.43892267_43892268delinsCT (hg19)
chr15:g.43600069_43600070delinsCT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43600069_43600070delinsCT , CM000677.2:g.43600069_43600070delinsCT | GRCh38 |
| NC_000015.9:g.43892267_43892268delinsCT , CM000677.1:g.43892267_43892268delinsCT | GRCh37 |
| NC_000015.8:g.41679559_41679560delinsCT | NCBI36 |
| NG_011636.1:g.23731_23732delinsAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450892.7:c.5129_5130delinsAG (STRC) MANE Select | ENSP00000401513.2:p.Ser1710Lys | |
| ENST00000411560.1:n.142+536_142+537delinsCT (CKMT1B) | ||
| ENST00000428650.5:c.*2162_*2163delinsAG (STRC) | ENSP00000415991.1:n.*2162_*2163delinsAG | |
| ENST00000440125.5:c.*2921_*2922delinsAG (STRC) | ENSP00000394866.1:n.*2921_*2922delinsAG | |
| ENST00000448437.6:n.2249_2250delinsAG (STRC) | ||
| ENST00000450892.6:c.5129_5130delinsAG (STRC) | ENSP00000401513.2:p.Ser1710Lys | |
| ENST00000471703.5:n.3083_3084delinsAG (STRC) | ||
| ENST00000485556.5:n.3984_3985delinsAG (STRC) | ||
| ENST00000541030.5:c.2810_2811delinsAG (STRC) | ENSP00000440413.1:p.Ser937Lys | |
| NM_153700.2:c.5129_5130delinsAG (STRC) MANE Select | NP_714544.1:p.Ser1710Lys | |
| XM_011521277.1:c.5618_5619delinsAG (STRC) | XP_011519579.1:p.Ser1873Lys | |
| XM_011521278.1:c.5234_5235delinsAG (STRC) | XP_011519580.1:p.Ser1745Lys | |
| XM_011521279.1:c.5234_5235delinsAG (STRC) | XP_011519581.1:p.Ser1745Lys |