Linked Data
ClinVar Variation Id:
246132
dbSNP Id:
rs879254115
MyVariant Identifiers:
chr3:g.10183617_10183618delinsTT (hg19)
chr3:g.10141933_10141934delinsTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10141933_10141934delinsTT , CM000665.2:g.10141933_10141934delinsTT | GRCh38 |
| NC_000003.11:g.10183617_10183618delinsTT , CM000665.1:g.10183617_10183618delinsTT | GRCh37 |
| NC_000003.10:g.10158617_10158618delinsTT | NCBI36 |
| NG_008212.3:g.5299_5300delinsTT , LRG_322:g.5299_5300delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.86_87delinsTT | ENSP00000512434.1:p.Gly29Val | |
| ENST00000696143.1:c.86_87delinsTT | ENSP00000512435.1:p.Gly29Val | |
| ENST00000696153.1:c.86_87delinsTT | ENSP00000512444.1:p.Gly29Val | |
| ENST00000256474.3:c.86_87delinsTT MANE Select | ENSP00000256474.3:p.Gly29Val | |
| ENST00000256474.2:c.86_87delinsTT | ENSP00000256474.2:p.Gly29Val | |
| ENST00000345392.2:c.86_87delinsTT | ENSP00000344757.2:p.Gly29Val | |
| NM_000551.3:c.86_87delinsTT , LRG_322t1:c.86_87delinsTT | NP_000542.1:p.Gly29Val | |
| NM_198156.2:c.86_87delinsTT | NP_937799.1:p.Gly29Val | |
| XM_011534078.1:c.86_87delinsTT | XP_011532380.1:p.Gly29Val | |
| NM_001354723.1:c.86_87delinsTT | NP_001341652.1:p.Gly29Val | |
| NM_000551.4:c.86_87delinsTT MANE Select | NP_000542.1:p.Gly29Val | |
| NM_001354723.2:c.86_87delinsTT | NP_001341652.1:p.Gly29Val | |
| NM_198156.3:c.86_87delinsTT | NP_937799.1:p.Gly29Val |