Linked Data
ClinVar Variation Id:
1966735
ClinVar RCV Id:
RCV002716791
dbSNP Id:
rs1369616364
gnomAD v4:
1-150799195-C-CCCA
MyVariant Identifiers:
chr1:g.150771671_150771672insCCA (hg19)
chr1:g.150799195_150799196insCCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.150799197_150799198insACC , CM000663.2:g.150799197_150799198insACC | GRCh38 |
| NC_000001.10:g.150771673_150771674insACC , CM000663.1:g.150771673_150771674insACC | GRCh37 |
| NC_000001.9:g.149038297_149038298insACC | NCBI36 |
| NG_011848.1:g.14141_14142insTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000271651.8:c.862_863insTGG MANE Select | ENSP00000271651.3:p.Lys287_Gly288insVal | |
| ENST00000443913.2:c.1039_1040insTGG | ENSP00000405083.2:p.Lys346_Gly347insVal | |
| ENST00000480670.2:n.3931_3932insTGG | ||
| ENST00000676680.1:c.*156_*157insTGG | ENSP00000503270.1:n.*156_*157insTGG | |
| ENST00000676716.1:c.739_740insTGG | ENSP00000504737.1:p.Lys246_Gly247insVal | |
| ENST00000676751.1:c.784+348_784+349insTGG | ENSP00000502964.1:n.784+348_784+349insTGG | |
| ENST00000676824.1:c.862_863insTGG | ENSP00000504176.1:p.Lys287_Gly288insVal | |
| ENST00000676966.1:c.862_863insTGG | ENSP00000503723.1:p.Lys287_Gly288insVal | |
| ENST00000676970.1:c.874_875insTGG | ENSP00000503832.1:p.Lys291_Gly292insVal | |
| ENST00000677330.1:n.2688_2689insTGG | ||
| ENST00000677611.1:n.714_715insTGG | ||
| ENST00000677887.1:c.904_905insTGG | ENSP00000503876.1:p.Lys301_Gly302insVal | |
| ENST00000678275.1:c.*754_*755insTGG | ENSP00000504796.1:n.*754_*755insTGG | |
| ENST00000678337.1:c.898_899insTGG | ENSP00000504759.1:p.Lys299_Gly300insVal | |
| ENST00000678725.1:n.2109_2110insTGG | ||
| ENST00000679090.1:n.1717_1718insTGG | ||
| ENST00000679148.1:n.3824_3825insTGG | ||
| ENST00000679171.1:n.3493_3494insTGG | ||
| ENST00000679178.1:n.573_574insTGG | ||
| ENST00000679260.1:c.643_644insTGG | ENSP00000504534.1:p.Lys214_Gly215insVal | |
| ENST00000271651.7:c.862_863insTGG | ENSP00000271651.3:p.Lys287_Gly288insVal | |
| NM_000396.3:c.862_863insTGG | NP_000387.1:p.Lys287_Gly288insVal | |
| NM_000396.4:c.862_863insTGG MANE Select | NP_000387.1:p.Lys287_Gly288insVal |