Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152304642_152304643delinsTG , CM000663.2:g.152304642_152304643delinsTG | GRCh38 |
| NC_000001.10:g.152277118_152277119delinsTG , CM000663.1:g.152277118_152277119delinsTG | GRCh37 |
| NC_000001.9:g.150543742_150543743delinsTG | NCBI36 |
| NG_016190.1:g.25561_25562delinsCA , LRG_1028:g.25561_25562delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.10243_10244delinsCA MANE Select | ENSP00000357789.1:p.His3415= | |
| ENST00000368799.1:c.10243_10244delinsCA | ENSP00000357789.1:p.His3415= | |
| NM_002016.1:c.10243_10244delinsCA , LRG_1028t1:c.10243_10244delinsCA | NP_002007.1:p.His3415= | |
| XM_011509329.1:c.9109-810_9109-809delinsCA | XP_011507631.1:n.9109-810_9109-809delinsCA | |
| NM_002016.2:c.10243_10244delinsCA MANE Select | NP_002007.1:p.His3415= |