Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768344_115768346delinsTGC , CM000663.2:g.115768344_115768346delinsTGC | GRCh38 |
| NC_000001.10:g.116310965_116310967delinsTGC , CM000663.1:g.116310965_116310967delinsTGC | GRCh37 |
| NC_000001.9:g.116112488_116112490delinsTGC | NCBI36 |
| NG_008802.1:g.5460_5462delinsGCA , LRG_404:g.5460_5462delinsGCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-81_-79delinsGCA | ENSP00000518226.1:n.-81_-79delinsGCA | |
| ENST00000261448.6:c.196_198delinsGCA MANE Select | ENSP00000261448.5:p.Thr66Ala | |
| ENST00000261448.5:c.196_198delinsGCA | ENSP00000261448.5:p.Thr66Ala | |
| NM_001232.3:c.196_198delinsGCA , LRG_404t1:c.196_198delinsGCA | NP_001223.2:p.Thr66Ala | |
| NM_001232.4:c.196_198delinsGCA MANE Select | NP_001223.2:p.Thr66Ala |