ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.614318_614319delinsCA , CM000673.2:g.614318_614319delinsCA | GRCh38 |
| NC_000011.9:g.614318_614319delinsCA , CM000673.1:g.614318_614319delinsCA | GRCh37 |
| NC_000011.8:g.604318_604319delinsCA | NCBI36 |
| NG_029106.1:g.6681_6682delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348655.11:c.534_535delinsTG | ENSP00000331803.9:p.Lys179Glu | |
| ENST00000469048.6:c.453+157_453+158delinsTG | ENSP00000434607.1:n.453+157_453+158delinsTG | |
| ENST00000525445.6:c.534_535delinsTG MANE Select | ENSP00000434009.2:p.Lys179Glu | |
| ENST00000528413.6:c.484_485delinsTG | ENSP00000497888.1:n.484_485delinsTG | |
| ENST00000330243.9:c.573_574delinsTG | ENSP00000329411.5:p.Lys192Glu | |
| ENST00000348655.10:c.534_535delinsTG | ENSP00000331803.9:p.Lys179Glu | |
| ENST00000397566.5:c.573_574delinsTG | ENSP00000380697.1:p.Lys192Glu | |
| ENST00000397570.5:c.573_574delinsTG | ENSP00000380700.2:p.Lys192Glu | |
| ENST00000397574.6:c.534_535delinsTG | ENSP00000380704.2:p.Lys179Glu | |
| ENST00000469048.5:c.453+157_453+158delinsTG | ENSP00000434607.1:n.453+157_453+158delinsTG | |
| ENST00000525445.5:c.216_217delinsTG | ENSP00000434009.1:p.Lys73Glu | |
| ENST00000525750.1:n.79_80delinsTG | ||
| ENST00000527160.1:n.307_308delinsTG | ||
| ENST00000532096.1:n.820_821delinsTG | ||
| ENST00000532326.5:c.450+157_450+158delinsTG | ENSP00000436696.1:n.450+157_450+158delinsTG | |
| ENST00000532788.1:c.492+157_492+158delinsTG | ENSP00000432403.1:n.492+157_492+158delinsTG | |
| ENST00000533182.5:c.453+157_453+158delinsTG | ENSP00000433903.1:n.453+157_453+158delinsTG | |
| NM_001572.3:c.534_535delinsTG | NP_001563.2:p.Lys179Glu | |
| NM_004029.2:c.534_535delinsTG | NP_004020.1:p.Lys179Glu | |
| NM_004031.2:c.573_574delinsTG | NP_004022.2:p.Lys192Glu | |
| XM_005252906.2:c.573_574delinsTG | XP_005252963.1:p.Lys192Glu | |
| XM_005252907.2:c.570_571delinsTG | XP_005252964.1:p.Lys191Glu | |
| XM_005252909.2:c.573_574delinsTG | XP_005252966.1:p.Lys192Glu | |
| XM_011520066.1:c.531_532delinsTG | XP_011518368.1:p.Lys178Glu | |
| NM_001572.4:c.534_535delinsTG | NP_001563.2:p.Lys179Glu | |
| NM_004029.3:c.534_535delinsTG | NP_004020.1:p.Lys179Glu | |
| NM_004031.3:c.573_574delinsTG | NP_004022.2:p.Lys192Glu | |
| XM_005252907.3:c.570_571delinsTG | XP_005252964.1:p.Lys191Glu | |
| XM_005252909.3:c.573_574delinsTG | XP_005252966.1:p.Lys192Glu | |
| XM_011520066.3:c.531_532delinsTG | XP_011518368.1:p.Lys178Glu | |
| XM_017017674.1:c.-114+157_-114+158delinsTG | XP_016873163.1:n.-114+157_-114+158delinsTG | |
| NM_001572.5:c.534_535delinsTG MANE Select | NP_001563.2:p.Lys179Glu | |
| NM_004029.4:c.534_535delinsTG | NP_004020.1:p.Lys179Glu | |
| NM_004031.4:c.573_574delinsTG | NP_004022.2:p.Lys192Glu |