Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7533785_7533786delinsTG , CM000681.2:g.7533785_7533786delinsTG | GRCh38 |
| NC_000019.9:g.7598671_7598672delinsTG , CM000681.1:g.7598671_7598672delinsTG | GRCh37 |
| NC_000019.8:g.7504671_7504672delinsTG | NCBI36 |
| NG_013374.1:g.4634_4635delinsTG | |
| NG_015806.1:g.16176_16177delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.1733_1734delinsTG MANE Select | ENSP00000264079.5:p.Leu578= | |
| ENST00000264079.10:c.1733_1734delinsTG | ENSP00000264079.5:p.Leu578= | |
| ENST00000394321.9:n.2048_2049delinsTG | ||
| ENST00000599334.1:c.461_462delinsTG | ||
| ENST00000601870.1:c.86_87delinsTG | ||
| ENST00000602227.1:n.287_288delinsTG | ||
| NM_020533.2:c.1733_1734delinsTG | NP_065394.1:p.Leu578= | |
| NM_020533.3:c.1733_1734delinsTG MANE Select | NP_065394.1:p.Leu578= |