Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984349_45984351delinsTCA , CM000683.2:g.45984349_45984351delinsTCA | GRCh38 |
| NC_000021.8:g.47404263_47404265delinsTCA , CM000683.1:g.47404263_47404265delinsTCA | GRCh37 |
| NC_000021.7:g.46228691_46228693delinsTCA | NCBI36 |
| NG_008674.1:g.7601_7603delinsTCA , LRG_475:g.7601_7603delinsTCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.308_310delinsTCA MANE Select | ENSP00000355180.3:p.Leu103= | |
| ENST00000361866.7:c.308_310delinsTCA | ENSP00000355180.3:p.Leu103= | |
| ENST00000612273.1:c.308_310delinsTCA | ENSP00000483630.1:p.Leu103= | |
| NM_001848.2:c.308_310delinsTCA , LRG_475t1:c.308_310delinsTCA | NP_001839.2:p.Leu103= | |
| NM_001848.3:c.308_310delinsTCA MANE Select | NP_001839.2:p.Leu103= |