Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.215728261_215728263delinsCTGACCC , CM000663.2:g.215728261_215728263delinsCTGACCC | GRCh38 |
| NC_000001.10:g.215901603_215901605delinsCTGACCC , CM000663.1:g.215901603_215901605delinsCTGACCC | GRCh37 |
| NC_000001.9:g.213968226_213968228delinsCTGACCC | NCBI36 |
| NG_009497.1:g.700134_700136delinsGGGTCAG | |
| NG_009497.2:g.700186_700188delinsGGGTCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307340.8:c.11833_11835delinsGGGTCAG MANE Select | ENSP00000305941.3:p.Cys3945GlyfsTer? | |
| ENST00000674083.1:c.11833_11835delinsGGGTCAG | ENSP00000501296.1:p.Cys3945GlyfsTer? | |
| ENST00000307340.7:c.11833_11835delinsGGGTCAG | ENSP00000305941.3:p.Cys3945GlyfsTer? | |
| NM_206933.2:c.11833_11835delinsGGGTCAG | NP_996816.2:p.Cys3945GlyfsTer? | |
| NM_206933.3:c.11833_11835delinsGGGTCAG | NP_996816.2:p.Cys3945GlyfsTer? | |
| NM_206933.4:c.11833_11835delinsGGGTCAG MANE Select | NP_996816.3:p.Cys3945GlyfsTer? |