Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45991017_45991018delinsCA , CM000683.2:g.45991017_45991018delinsCA | GRCh38 |
| NC_000021.8:g.47410931_47410932delinsCA , CM000683.1:g.47410931_47410932delinsCA | GRCh37 |
| NC_000021.7:g.46235359_46235360delinsCA | NCBI36 |
| NG_008674.1:g.14269_14270delinsCA , LRG_475:g.14269_14270delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.1095_1096delinsCA MANE Select | ENSP00000355180.3:p.Ala366Thr | |
| ENST00000361866.7:c.1095_1096delinsCA | ENSP00000355180.3:p.Ala366Thr | |
| ENST00000612273.1:c.1095_1096delinsCA | ENSP00000483630.1:p.Ala366Thr | |
| NM_001848.2:c.1095_1096delinsCA , LRG_475t1:c.1095_1096delinsCA | NP_001839.2:p.Ala366Thr | |
| NM_001848.3:c.1095_1096delinsCA MANE Select | NP_001839.2:p.Ala366Thr |