Linked Data
dbSNP Id:
rs1343126904
gnomAD v2:
6-31237795-T-TAGGATAGCC
MyVariant Identifiers:
chr6:g.31237795_31237796insAGGATAGCC (hg19)
chr6:g.31270018_31270019insAGGATAGCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270022_31270023insTAGCCAGGA , CM000668.2:g.31270022_31270023insTAGCCAGGA | GRCh38 |
| NC_000006.11:g.31237799_31237800insTAGCCAGGA , CM000668.1:g.31237799_31237800insTAGCCAGGA | GRCh37 |
| NC_000006.10:g.31345778_31345779insTAGCCAGGA | NCBI36 |
| NG_029422.2:g.7113_7114insGGCTATCCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.962_963insGGCTATCCT MANE Select | ENSP00000365402.5:p.Leu321_Ala322insAlaIleLeu | |
| ENST00000376228.9:c.962_963insGGCTATCCT | ENSP00000365402.5:p.Leu321_Ala322insAlaIleLeu | |
| ENST00000376237.8:c.*549_*550insGGCTATCCT | ENSP00000365412.4:n.*549_*550insGGCTATCCT | |
| ENST00000383329.7:c.962_963insGGCTATCCT | ENSP00000372819.3:p.Leu321_Ala322insAlaIleLeu | |
| ENST00000470363.5:n.280_281insGGCTATCCT | ||
| ENST00000487245.5:n.1321_1322insGGCTATCCT | ||
| NM_002117.5:c.962_963insGGCTATCCT | NP_002108.4:p.Leu321_Ala322insAlaIleLeu | |
| NM_002117.6:c.962_963insGGCTATCCT MANE Select | NP_002108.4:p.Leu321_Ala322insAlaIleLeu |