Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257421_133257423delinsAAC , CM000671.2:g.133257421_133257423delinsAAC | GRCh38 |
| NC_000009.11:g.136132808_136132810delinsAAC , CM000671.1:g.136132808_136132810delinsAAC | GRCh37 |
| NC_000009.10:g.135122629_135122631delinsAAC | NCBI36 |
| NG_006669.1:g.20245_20247delinsGTT | |
| NG_006669.2:g.22793_22795delinsGTT |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.389_391delinsGTT | ||
| ENST00000647353.1:n.54-6271_54-6269delinsGTT | ||
| ENST00000651471.1:n.329+619_329+621delinsGTT | ||
| ENST00000679909.1:c.28+17739_28+17741delinsGTT | ENSP00000506089.1:n.28+17739_28+17741deli... | |
| ENST00000453660.3:n.371_373delinsGTT | ||
| ENST00000538324.2:c.357_359delinsGTT | ENSP00000483018.1:p.Val119= | |
| ENST00000611156.4:c.357_359delinsGTT | ENSP00000483265.1:p.Val119= | |
| NM_020469.2:c.360_362delinsGTT | NP_065202.2:p.Val120= | |
| NM_020469.3:c.360_362delinsGTT | NP_065202.2:p.Val120= |