Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133255584_133255586delinsCAG , CM000671.2:g.133255584_133255586delinsCAG | GRCh38 |
| NC_000009.11:g.136130971_136130973delinsCAG , CM000671.1:g.136130971_136130973delinsCAG | GRCh37 |
| NC_000009.10:g.135120792_135120794delinsCAG | NCBI36 |
| NG_006669.1:g.22082_22084delinsCTG | |
| NG_006669.2:g.24630_24632delinsCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000453660.4:n.1174_1176delinsCTG | ||
| ENST00000647353.1:n.54-4434_54-4432delinsCTG | ||
| ENST00000679909.1:c.28+19576_28+19578delinsCTG | ENSP00000506089.1:n.28+19576_28+19578delinsCTG | |
| ENST00000453660.3:n.1156_1158delinsCTG | ||
| ENST00000611156.4:c.*80_*82delinsCTG | ENSP00000483265.1:n.*80_*82delinsCTG | |
| NM_020469.2:c.*80_*82delinsCTG | NP_065202.2:n.*80_*82delinsCTG | |
| NM_020469.3:c.*80_*82delinsCTG | NP_065202.2:n.*80_*82delinsCTG |