Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.66228127_66228130delinsTCTC , CM000679.2:g.66228127_66228130delinsTCTC | GRCh38 |
| NC_000017.10:g.64224245_64224248delinsTCTC , CM000679.1:g.64224245_64224248delinsTCTC | GRCh37 |
| NC_000017.9:g.61654707_61654710delinsTCTC | NCBI36 |
| NG_012045.1:g.6309_6312delinsGAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000205948.11:c.131_134delinsGAGA MANE Select | ENSP00000205948.6:p.Gly44= | |
| ENST00000205948.10:c.131_134delinsGAGA | ENSP00000205948.6:p.Gly44= | |
| ENST00000577982.1:c.131_134delinsGAGA | ENSP00000464301.1:p.Gly44= | |
| ENST00000581797.5:c.-50_-47delinsGAGA | ENSP00000463553.1:n.-50_-47delinsGAGA | |
| NM_000042.2:c.131_134delinsGAGA | NP_000033.2:p.Gly44= | |
| NM_000042.3:c.131_134delinsGAGA MANE Select | NP_000033.2:p.Gly44= |