Linked Data
dbSNP Id:
rs1464778478
gnomAD v2:
11-6411941-C-CGCTGGT
gnomAD v3:
11-6390711-C-CGCTGGT
gnomAD v4:
11-6390711-C-CGCTGGT
MyVariant Identifiers:
chr11:g.6411941_6411942insGCTGGT (hg19)
chr11:g.6390711_6390712insGCTGGT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6390716_6390717insTGCTGG , CM000673.2:g.6390716_6390717insTGCTGG | GRCh38 |
| NC_000011.9:g.6411946_6411947insTGCTGG , CM000673.1:g.6411946_6411947insTGCTGG | GRCh37 |
| NC_000011.8:g.6368522_6368523insTGCTGG | NCBI36 |
| NG_011780.1:g.5292_5293insTGCTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342245.9:c.118_119insTGCTGG MANE Select | ENSP00000340409.4:p.Leu39_Ala40insValLeu | |
| ENST00000342245.8:c.118_119insTGCTGG | ENSP00000340409.4:p.Leu39_Ala40insValLeu | |
| ENST00000527275.5:c.118_119insTGCTGG | ENSP00000435350.1:p.Leu39_Ala40insValLeu | |
| ENST00000530395.1:c.-96+77_-96+78insTGCTGG | ENSP00000431479.1:n.-96+77_-96+78insTGCTGG | |
| ENST00000531303.5:c.118_119insTGCTGG | ENSP00000432625.1:p.Leu39_Ala40insValLeu | |
| ENST00000533123.5:c.118_119insTGCTGG | ENSP00000435950.1:p.Leu39_Ala40insValLeu | |
| ENST00000533196.1:n.277_278insTGCTGG | ||
| ENST00000534405.5:c.118_119insTGCTGG | ENSP00000434353.1:p.Leu39_Ala40insValLeu | |
| NM_000543.4:c.118_119insTGCTGG | NP_000534.3:p.Leu39_Ala40insValLeu | |
| NM_001007593.2:c.118_119insTGCTGG | NP_001007594.2:p.Leu39_Ala40insValLeu | |
| XM_005253075.3:c.118_119insTGCTGG | XP_005253132.1:p.Leu39_Ala40insValLeu | |
| XM_011520303.1:c.118_119insTGCTGG | XP_011518605.1:p.Leu39_Ala40insValLeu | |
| XM_011520304.1:c.118_119insTGCTGG | XP_011518606.1:p.Leu39_Ala40insValLeu | |
| XR_930886.1:n.416_417insTGCTGG | ||
| NM_001318087.1:c.118_119insTGCTGG | NP_001305016.1:p.Leu39_Ala40insValLeu | |
| NM_001318088.1:c.-844_-843insTGCTGG | NP_001305017.1:n.-844_-843insTGCTGG | |
| NM_001365135.1:c.118_119insTGCTGG | NP_001352064.1:p.Leu39_Ala40insValLeu | |
| NR_027400.2:n.303_304insTGCTGG | ||
| NR_134502.1:n.303_304insTGCTGG | ||
| XM_011520304.2:c.118_119insTGCTGG | XP_011518606.1:p.Leu39_Ala40insValLeu | |
| XR_001747940.2:n.243_244insTGCTGG | ||
| XR_002957158.1:n.243_244insTGCTGG | ||
| NM_000543.5:c.118_119insTGCTGG MANE Select | NP_000534.3:p.Leu39_Ala40insValLeu | |
| NM_001007593.3:c.118_119insTGCTGG | NP_001007594.2:p.Leu39_Ala40insValLeu | |
| NM_001318087.2:c.118_119insTGCTGG | NP_001305016.1:p.Leu39_Ala40insValLeu | |
| NM_001318088.2:c.-844_-843insTGCTGG | NP_001305017.1:n.-844_-843insTGCTGG | |
| NM_001365135.2:c.118_119insTGCTGG | NP_001352064.1:p.Leu39_Ala40insValLeu | |
| NR_027400.3:n.243_244insTGCTGG | ||
| NR_134502.2:n.243_244insTGCTGG |