Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255823_133255824delinsTC , CM000671.2:g.133255823_133255824delinsTC | GRCh38 |
| NC_000009.11:g.136131210_136131211delinsTC , CM000671.1:g.136131210_136131211delinsTC | GRCh37 |
| NC_000009.10:g.135121031_135121032delinsTC | NCBI36 |
| NG_006669.1:g.21844_21845delinsGA | |
| NG_006669.2:g.24392_24393delinsGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.936_937delinsGA | ||
| ENST00000647353.1:n.54-4672_54-4671delinsGA | ||
| ENST00000679909.1:c.28+19338_28+19339delinsGA | ENSP00000506089.1:n.28+19338_28+19339delinsGA | |
| ENST00000453660.3:n.918_919delinsGA | ||
| ENST00000538324.2:c.904_905delinsGA | ENSP00000483018.1:p.Glu302= | |
| ENST00000611156.4:c.904_905delinsGA | ENSP00000483265.1:p.Glu302= | |
| NM_020469.2:c.907_908delinsGA | NP_065202.2:p.Glu303= | |
| NM_020469.3:c.907_908delinsGA | NP_065202.2:p.Glu303= |