Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255669_133255670delinsCG , CM000671.2:g.133255669_133255670delinsCG | GRCh38 |
| NC_000009.11:g.136131056_136131057delinsCG , CM000671.1:g.136131056_136131057delinsCG | GRCh37 |
| NC_000009.10:g.135120877_135120878delinsCG | NCBI36 |
| NG_006669.1:g.21998_21999delinsCG | |
| NG_006669.2:g.24546_24547delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1090_1091delinsCG | ||
| ENST00000647353.1:n.54-4518_54-4517delinsCG | ||
| ENST00000679909.1:c.28+19492_28+19493delinsCG | ENSP00000506089.1:n.28+19492_28+19493delinsCG | |
| ENST00000453660.3:n.1072_1073delinsCG | ||
| ENST00000538324.2:c.1054_1055delinsCG | ENSP00000483018.1:p.Arg352= | |
| ENST00000611156.4:c.1058_1059delinsCG | ENSP00000483265.1:p.Pro353= | |
| NM_020469.2:c.1061_1062delinsCG | NP_065202.2:p.Pro354= | |
| NM_020469.3:c.1061_1062delinsCG | NP_065202.2:p.Pro354= |