Linked Data
ClinVar Variation Id:
185250
ClinVar RCV Id:
RCV000164635
dbSNP Id:
rs786202032
MyVariant Identifiers:
chr11:g.94204762_94204764delinsT (hg19)
chr11:g.94471596_94471598delinsT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.94471596_94471598delinsT , CM000673.2:g.94471596_94471598delinsT | GRCh38 |
| NC_000011.9:g.94204762_94204764delinsT , CM000673.1:g.94204762_94204764delinsT | GRCh37 |
| NC_000011.8:g.93844410_93844412delinsT | NCBI36 |
| NG_007261.1:g.27277_27279delinsA , LRG_85:g.27277_27279delinsA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000323929.8:c.821_823delinsA MANE Select | ENSP00000325863.4:p.Leu274HisfsTer16 | |
| ENST00000323929.7:c.821_823delinsA | ENSP00000325863.3:p.Leu274HisfsTer16 | |
| ENST00000323977.7:c.821_823delinsA | ENSP00000326094.3:p.Leu274HisfsTer16 | |
| ENST00000393241.8:c.821_823delinsA | ENSP00000376933.4:p.Leu274HisfsTer16 | |
| ENST00000407439.7:c.830_832delinsA | ENSP00000385614.3:p.Leu277HisfsTer16 | |
| NM_005590.3:c.821_823delinsA | NP_005581.2:p.Leu274HisfsTer16 | |
| NM_005591.3:c.821_823delinsA , LRG_85t1:c.821_823delinsA | NP_005582.1:p.Leu274HisfsTer16 | |
| XM_005274008.2:c.353_355delinsA | XP_005274065.1:p.Leu118HisfsTer16 | |
| XM_006718842.2:c.821_823delinsA | XP_006718905.1:p.Leu274HisfsTer16 | |
| XM_011542837.1:c.821_823delinsA | XP_011541139.1:p.Leu274HisfsTer16 | |
| XR_947828.1:n.1117_1119delinsA | ||
| NM_001330347.1:c.821_823delinsA | NP_001317276.1:p.Leu274HisfsTer16 | |
| XM_005274008.3:c.353_355delinsA | XP_005274065.1:p.Leu118HisfsTer16 | |
| XM_006718842.3:c.821_823delinsA | XP_006718905.1:p.Leu274HisfsTer16 | |
| XM_011542837.2:c.821_823delinsA | XP_011541139.1:p.Leu274HisfsTer16 | |
| XM_017017772.1:c.821_823delinsA | XP_016873261.1:p.Leu274HisfsTer16 | |
| XR_947828.2:n.1117_1119delinsA | ||
| NM_001330347.2:c.821_823delinsA | NP_001317276.1:p.Leu274HisfsTer16 | |
| NM_005590.4:c.821_823delinsA | NP_005581.2:p.Leu274HisfsTer16 | |
| NM_005591.4:c.821_823delinsA MANE Select | NP_005582.1:p.Leu274HisfsTer16 |