Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5225733_5225738delinsTAGGAG , CM000673.2:g.5225733_5225738delinsTAGGAG | GRCh38 |
| NC_000011.9:g.5246963_5246968delinsTAGGAG , CM000673.1:g.5246963_5246968delinsTAGGAG | GRCh37 |
| NC_000011.8:g.5203539_5203544delinsTAGGAG | NCBI36 |
| NG_000007.3:g.71878_71883delinsCTCCTA | |
| NG_059281.1:g.6334_6339delinsCTCCTA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647020.1:c.316-12_316-7delinsCTCCTA | ENSP00000494175.1:n.316-12_316-7delinsCTCCTA | |
| ENST00000335295.4:c.316-12_316-7delinsCTCCTA MANE Select | ENSP00000333994.3:n.316-12_316-7delinsCTCCTA | |
| ENST00000475226.1:n.248-12_248-7delinsCTCCTA | ||
| ENST00000633227.1:c.*132-12_*132-7delinsCTCCTA | ENSP00000488004.1:n.*132-12_*132-7delinsCTCCTA | |
| NM_000518.4:c.316-12_316-7delinsCTCCTA | NP_000509.1:n.316-12_316-7delinsCTCCTA | |
| NM_000518.5:c.316-12_316-7delinsCTCCTA MANE Select | NP_000509.1:n.316-12_316-7delinsCTCCTA |