Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.152310799_152310800insGAG , CM000663.2:g.152310799_152310800insGAG | GRCh38 |
| NC_000001.10:g.152283275_152283276insGAG , CM000663.1:g.152283275_152283276insGAG | GRCh37 |
| NC_000001.9:g.150549899_150549900insGAG | NCBI36 |
| NG_016190.1:g.19405_19406insTCC , LRG_1028:g.19405_19406insTCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368799.2:c.4087_4088insTCC MANE Select | ENSP00000357789.1:p.Gln1362_Gln1363insLeu | |
| ENST00000368799.1:c.4087_4088insTCC | ENSP00000357789.1:p.Gln1362_Gln1363insLeu | |
| NM_002016.1:c.4087_4088insTCC , LRG_1028t1:c.4087_4088insTCC | NP_002007.1:p.Gln1362_Gln1363insLeu | |
| XM_011509329.1:c.4087_4088insTCC | XP_011507631.1:p.Gln1362_Gln1363insLeu | |
| NM_002016.2:c.4087_4088insTCC MANE Select | NP_002007.1:p.Gln1362_Gln1363insLeu |