Linked Data
ClinVar Variation Id:
2031522
ClinVar RCV Id:
RCV002867273
dbSNP Id:
rs765500188
ExAC:
1:11850901 ACTC / A
gnomAD v2:
1-11850901-ACTC-A
gnomAD v3:
1-11790844-ACTC-A
gnomAD v4:
1-11790844-ACTC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11790851_11790853del , CM000663.2:g.11790851_11790853del | GRCh38 |
| NC_000001.10:g.11850908_11850910del , CM000663.1:g.11850908_11850910del | GRCh37 |
| NC_000001.9:g.11773495_11773497del | NCBI36 |
| NG_013351.1:g.20257_20259del , LRG_726:g.20257_20259del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376585.6:c.1927_1929del | ENSP00000365770.1:p.Glu643del | |
| ENST00000376590.9:c.1804_1806del MANE Select | ENSP00000365775.3:p.Glu602del | |
| ENST00000376592.6:c.1804_1806del | ENSP00000365777.1:p.Glu602del | |
| ENST00000423400.7:c.1924_1926del | ENSP00000398908.3:p.Glu642del | |
| ENST00000641407.1:c.1753-131_1753-129del | ENSP00000493098.1:n.1753-131_1753-129del | |
| ENST00000641446.1:c.*263_*265del | ENSP00000493262.1:n.*263_*265del | |
| ENST00000641747.1:c.*1316_*1318del | ENSP00000493116.1:n.*1316_*1318del | |
| ENST00000641759.1:n.2173_2175del | ||
| ENST00000641805.1:n.2270-131_2270-129del | ||
| ENST00000641820.1:c.1069_1071del | ENSP00000492937.1:p.Glu357del | |
| ENST00000376583.7:c.1927_1929del | ENSP00000365767.3:p.Glu643del | |
| ENST00000376585.5:c.1927_1929del | ENSP00000365770.1:p.Glu643del | |
| ENST00000376590.7:c.1804_1806del | ENSP00000365775.3:p.Glu602del | |
| ENST00000376592.5:c.1804_1806del | ENSP00000365777.1:p.Glu602del | |
| NM_005957.4:c.1804_1806del , LRG_726t1:c.1804_1806del | NP_005948.3:p.Glu602del | |
| XM_005263458.2:c.1927_1929del | XP_005263515.1:p.Glu643del | |
| XM_005263460.3:c.1804_1806del | XP_005263517.1:p.Glu602del | |
| XM_005263461.3:c.1804_1806del | XP_005263518.1:p.Glu602del | |
| XM_005263462.3:c.1804_1806del | XP_005263519.1:p.Glu602del | |
| XM_005263463.2:c.1558_1560del | XP_005263520.1:p.Glu520del | |
| XM_011541495.1:c.1924_1926del | XP_011539797.1:p.Glu642del | |
| XM_011541496.1:c.1876-131_1876-129del | XP_011539798.1:n.1876-131_1876-129del | |
| NM_001330358.1:c.1927_1929del | NP_001317287.1:p.Glu643del | |
| XM_005263460.5:c.1804_1806del | XP_005263517.1:p.Glu602del | |
| XM_005263462.4:c.1804_1806del | XP_005263519.1:p.Glu602del | |
| XM_005263463.4:c.1558_1560del | XP_005263520.1:p.Glu520del | |
| XM_011541495.3:c.1924_1926del | XP_011539797.1:p.Glu642del | |
| XM_011541496.3:c.1876-131_1876-129del | XP_011539798.1:n.1876-131_1876-129del | |
| XM_017001328.2:c.1876-99_1876-97del | XP_016856817.1:n.1876-99_1876-97del | |
| XM_024447198.1:c.1558_1560del | XP_024302966.1:p.Glu520del | |
| XR_002956640.1:n.2854-131_2854-129del | ||
| NM_005957.5:c.1804_1806del MANE Select | NP_005948.3:p.Glu602del | |
| NM_001330358.2:c.1927_1929del | NP_001317287.1:p.Glu643del |