Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39247671_39247672delinsCG , CM000681.2:g.39247671_39247672delinsCG | GRCh38 |
| NC_000019.9:g.39738311_39738312delinsCG , CM000681.1:g.39738311_39738312delinsCG | GRCh37 |
| NC_000019.8:g.44430151_44430152delinsCG | NCBI36 |
| NG_042193.1:g.2300_2301delinsCG | |
| NG_055295.1:g.6185_6186delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000606380.2:c.367+36_367+37delinsCG | ENSP00000476098.1:n.367+36_367+37delinsCG | |
| ENST00000610963.1:c.366+36_366+37delinsCG | ENSP00000481371.1:n.366+36_366+37delinsCG | |
| ENST00000616270.4:c.224-6_224-5delinsCG | ENSP00000480679.1:n.224-6_224-5delinsCG | |
| ENST00000634680.1:c.152-209_152-208delinsCG | ENSP00000489240.1:n.152-209_152-208delinsCG | |
| ENST00000634967.1:c.224-209_224-208delinsCG | ENSP00000489559.1:n.224-209_224-208delinsCG | |
| NR_074079.1:n.644+36_644+37delinsCG |