Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44118598_44118599insCCAGGAA , CM000682.2:g.44118598_44118599insCCAGGAA | GRCh38 |
| NC_000020.10:g.42747238_42747239insCCAGGAA , CM000682.1:g.42747238_42747239insCCAGGAA | GRCh37 |
| NC_000020.9:g.42180652_42180653insCCAGGAA | NCBI36 |
| NG_031867.1:g.73980_73981insTTCCTGG , LRG_394:g.73980_73981insTTCCTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372980.4:c.1194_1195insTTCCTGG MANE Select | ENSP00000362071.3:p.Glu399PhefsTer? | |
| ENST00000372980.3:c.1194_1195insTTCCTGG | ENSP00000362071.3:p.Glu399PhefsTer? | |
| NM_020433.4:c.1194_1195insTTCCTGG , LRG_394t1:c.1194_1195insTTCCTGG | NP_065166.2:p.Glu399PhefsTer? | |
| XM_006723832.2:c.1194_1195insTTCCTGG | XP_006723895.1:p.Glu399PhefsTer? | |
| NM_020433.5:c.1194_1195insTTCCTGG MANE Select | NP_065166.2:p.Glu399PhefsTer? |