Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10644867_10644868del , CM000682.2:g.10644867_10644868del | GRCh38 |
| NC_000020.10:g.10625515_10625516del , CM000682.1:g.10625515_10625516del | GRCh37 |
| NC_000020.9:g.10573515_10573516del | NCBI36 |
| NG_007496.1:g.34180_34181del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.2340_2341del MANE Select | ENSP00000254958.4:p.Gln781GlufsTer4 | |
| ENST00000617965.2:n.2929_2930del | ||
| ENST00000254958.9:c.2340_2341del | ENSP00000254958.4:p.Gln781GlufsTer4 | |
| ENST00000423891.6:n.2206_2207del | ||
| ENST00000488480.2:n.737_738del | ||
| NM_000214.2:c.2340_2341del | NP_000205.1:p.Gln781GlufsTer4 | |
| NM_000214.3:c.2340_2341del MANE Select | NP_000205.1:p.Gln781GlufsTer4 |