Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10658690_10658691insATGTAACAGAGGTATGT , CM000682.2:g.10658690_10658691insATGTAACAGAGGTATGT | GRCh38 |
| NC_000020.10:g.10639338_10639339insATGTAACAGAGGTATGT , CM000682.1:g.10639338_10639339insATGTAACAGAGGTATGT | GRCh37 |
| NC_000020.9:g.10587338_10587339insATGTAACAGAGGTATGT | NCBI36 |
| NG_007496.1:g.20356_20357insACATACCTCTGTTACAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254958.10:c.471_472insACATACCTCTGTTACAT MANE Select | ENSP00000254958.4:p.Ser158ThrfsTer9 | |
| ENST00000254958.9:c.471_472insACATACCTCTGTTACAT | ENSP00000254958.4:p.Ser158ThrfsTer9 | |
| ENST00000423891.6:n.337_338insACATACCTCTGTTACAT | ||
| NM_000214.2:c.471_472insACATACCTCTGTTACAT | NP_000205.1:p.Ser158ThrfsTer9 | |
| NM_000214.3:c.471_472insACATACCTCTGTTACAT MANE Select | NP_000205.1:p.Ser158ThrfsTer9 |