Linked Data
ClinVar Variation Id:
286247
dbSNP Id:
rs886043349
MyVariant Identifiers:
chr1:g.11854085_11854086delinsAG (hg19)
chr1:g.11794028_11794029delinsAG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11794028_11794029delinsAG , CM000663.2:g.11794028_11794029delinsAG | GRCh38 |
| NC_000001.10:g.11854085_11854086delinsAG , CM000663.1:g.11854085_11854086delinsAG | GRCh37 |
| NC_000001.9:g.11776672_11776673delinsAG | NCBI36 |
| NG_013351.1:g.17075_17076delinsCT , LRG_726:g.17075_17076delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376585.6:c.1531_1532delinsCT | ENSP00000365770.1:p.Glu511Leu | |
| ENST00000376590.9:c.1408_1409delinsCT MANE Select | ENSP00000365775.3:p.Glu470Leu | |
| ENST00000376592.6:c.1408_1409delinsCT | ENSP00000365777.1:p.Glu470Leu | |
| ENST00000423400.7:c.1528_1529delinsCT | ENSP00000398908.3:p.Glu510Leu | |
| ENST00000641407.1:c.1408_1409delinsCT | ENSP00000493098.1:p.Glu470Leu | |
| ENST00000641446.1:c.1408_1409delinsCT | ENSP00000493262.1:p.Glu470Leu | |
| ENST00000641747.1:c.*920_*921delinsCT | ENSP00000493116.1:n.*920_*921delinsCT | |
| ENST00000641759.1:n.1777_1778delinsCT | ||
| ENST00000641805.1:n.1925_1926delinsCT | ||
| ENST00000641820.1:c.673_674delinsCT | ENSP00000492937.1:p.Glu225Leu | |
| ENST00000376583.7:c.1531_1532delinsCT | ENSP00000365767.3:p.Glu511Leu | |
| ENST00000376585.5:c.1531_1532delinsCT | ENSP00000365770.1:p.Glu511Leu | |
| ENST00000376590.7:c.1408_1409delinsCT | ENSP00000365775.3:p.Glu470Leu | |
| ENST00000376592.5:c.1408_1409delinsCT | ENSP00000365777.1:p.Glu470Leu | |
| NM_005957.4:c.1408_1409delinsCT , LRG_726t1:c.1408_1409delinsCT | NP_005948.3:p.Glu470Leu | |
| XM_005263458.2:c.1531_1532delinsCT | XP_005263515.1:p.Glu511Leu | |
| XM_005263460.3:c.1408_1409delinsCT | XP_005263517.1:p.Glu470Leu | |
| XM_005263461.3:c.1408_1409delinsCT | XP_005263518.1:p.Glu470Leu | |
| XM_005263462.3:c.1408_1409delinsCT | XP_005263519.1:p.Glu470Leu | |
| XM_005263463.2:c.1162_1163delinsCT | XP_005263520.1:p.Glu388Leu | |
| XM_011541495.1:c.1528_1529delinsCT | XP_011539797.1:p.Glu510Leu | |
| XM_011541496.1:c.1531_1532delinsCT | XP_011539798.1:p.Glu511Leu | |
| NM_001330358.1:c.1531_1532delinsCT | NP_001317287.1:p.Glu511Leu | |
| XM_005263460.5:c.1408_1409delinsCT | XP_005263517.1:p.Glu470Leu | |
| XM_005263462.4:c.1408_1409delinsCT | XP_005263519.1:p.Glu470Leu | |
| XM_005263463.4:c.1162_1163delinsCT | XP_005263520.1:p.Glu388Leu | |
| XM_011541495.3:c.1528_1529delinsCT | XP_011539797.1:p.Glu510Leu | |
| XM_011541496.3:c.1531_1532delinsCT | XP_011539798.1:p.Glu511Leu | |
| XM_017001328.2:c.1531_1532delinsCT | XP_016856817.1:p.Glu511Leu | |
| XM_024447198.1:c.1162_1163delinsCT | XP_024302966.1:p.Glu388Leu | |
| XR_002956640.1:n.2509_2510delinsCT | ||
| NM_005957.5:c.1408_1409delinsCT MANE Select | NP_005948.3:p.Glu470Leu | |
| NM_001330358.2:c.1531_1532delinsCT | NP_001317287.1:p.Glu511Leu |