Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.30304728_30304729insTACC , CM000685.2:g.30304728_30304729insTACC | GRCh38 |
| NC_000023.10:g.30322845_30322846insTACC , CM000685.1:g.30322845_30322846insTACC | GRCh37 |
| NC_000023.9:g.30232766_30232767insTACC | NCBI36 |
| NG_009814.1:g.9650_9651insGGTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378970.5:c.1263_1264insGGTA MANE Select | ENSP00000368253.4:p.Pro422GlyfsTer4 | |
| ENST00000378970.4:c.1263_1264insGGTA | ENSP00000368253.4:p.Pro422GlyfsTer4 | |
| NM_000475.4:c.1263_1264insGGTA | NP_000466.2:p.Pro422GlyfsTer4 | |
| NM_000475.5:c.1263_1264insGGTA MANE Select | NP_000466.2:p.Pro422GlyfsTer4 |