Linked Data
dbSNP Id:
rs771318858
gnomAD v2:
17-79826898-C-CCTGACCCTCA
gnomAD v4:
17-81869022-C-CCTGACCCTCA
MyVariant Identifiers:
chr17:g.79826898_79826899insCTGACCCTCA (hg19)
chr17:g.81869022_81869023insCTGACCCTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81869022_81869023insCTGACCCTCA , CM000679.2:g.81869022_81869023insCTGACCCTCA | GRCh38 |
| NC_000017.10:g.79826898_79826899insCTGACCCTCA , CM000679.1:g.79826898_79826899insCTGACCCTCA | GRCh37 |
| NC_000017.9:g.77420187_77420188insCTGACCCTCA | NCBI36 |
| NG_034210.1:g.7384_7385insTGAGGGTCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269321.12:c.468_469insTGAGGGTCAG MANE Select | ENSP00000269321.7:p.Glu157Ter | |
| ENST00000269321.11:c.468_469insTGAGGGTCAG | ENSP00000269321.7:p.Glu157Ter | |
| ENST00000400721.8:c.416-80_416-79insTGAGGGTCAG | ENSP00000383556.4:n.416-80_416-79insTGAGGGTCAG | |
| ENST00000541078.6:c.468_469insTGAGGGTCAG | ENSP00000441348.2:p.Glu157Ter | |
| ENST00000579121.5:c.468_469insTGAGGGTCAG | ENSP00000462960.1:p.Glu157Ter | |
| ENST00000580033.5:c.*112_*113insTGAGGGTCAG | ENSP00000463530.1:n.*112_*113insTGAGGGTCAG | |
| ENST00000580685.5:c.468_469insTGAGGGTCAG | ENSP00000464205.1:p.Glu157Ter | |
| ENST00000581876.5:c.243_244insTGAGGGTCAG | ENSP00000461956.1:p.Glu82Ter | |
| ENST00000582984.5:n.670_671insTGAGGGTCAG | ||
| ENST00000583791.1:n.332_333insTGAGGGTCAG | ||
| ENST00000583868.5:c.435+33_435+34insTGAGGGTCAG | ENSP00000462209.1:n.435+33_435+34insTGAGGGTCAG | |
| ENST00000584461.5:c.468_469insTGAGGGTCAG | ENSP00000463939.1:p.Glu157Ter | |
| NM_001185077.2:c.468_469insTGAGGGTCAG | NP_001172006.1:p.Glu157Ter | |
| NM_001185078.2:c.416-80_416-79insTGAGGGTCAG | NP_001172007.1:n.416-80_416-79insTGAGGGTCAG | |
| NM_001301240.1:c.468_469insTGAGGGTCAG | NP_001288169.1:p.Glu157Ter | |
| NM_001301241.1:c.468_469insTGAGGGTCAG | NP_001288170.1:p.Glu157Ter | |
| NM_001301242.1:c.435+33_435+34insTGAGGGTCAG | NP_001288171.1:n.435+33_435+34insTGAGGGTCAG | |
| NM_001301243.1:c.603_604insTGAGGGTCAG | NP_001288172.1:p.Glu202Ter | |
| NM_004309.5:c.468_469insTGAGGGTCAG | NP_004300.1:p.Glu157Ter | |
| NR_125441.1:n.527_528insTGAGGGTCAG | ||
| XM_011523574.1:c.603_604insTGAGGGTCAG | XP_011521876.1:p.Glu202Ter | |
| NM_004309.6:c.468_469insTGAGGGTCAG MANE Select | NP_004300.1:p.Glu157Ter | |
| NM_001185077.3:c.468_469insTGAGGGTCAG | NP_001172006.1:p.Glu157Ter | |
| NM_001185078.3:c.416-80_416-79insTGAGGGTCAG | NP_001172007.1:n.416-80_416-79insTGAGGGTCAG | |
| NM_001301240.2:c.468_469insTGAGGGTCAG | NP_001288169.1:p.Glu157Ter | |
| NM_001301241.2:c.468_469insTGAGGGTCAG | NP_001288170.1:p.Glu157Ter | |
| NM_001301242.2:c.435+33_435+34insTGAGGGTCAG | NP_001288171.1:n.435+33_435+34insTGAGGGTCAG | |
| NM_001301243.2:c.603_604insTGAGGGTCAG | NP_001288172.1:p.Glu202Ter | |
| NR_125441.2:n.458_459insTGAGGGTCAG |