Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173598_173602delinsTAAGC , CM000678.2:g.173598_173602delinsTAAGC | GRCh38 |
| NC_000016.9:g.223597_223601delinsTAAGC , CM000678.1:g.223597_223601delinsTAAGC | GRCh37 |
| NC_000016.8:g.163597_163601delinsTAAGC | NCBI36 |
| NG_000006.1:g.34461_34465delinsTAAGC | |
| NG_059186.1:g.1948_1952delinsTAAGC | |
| NG_059271.1:g.5752_5756delinsTAAGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.427_*2delinsTAAGC MANE Select | ENSP00000251595.6:n.[c.427_*2delinsTAAGC;Ter143=] | |
| ENST00000251595.10:c.427_*2delinsTAAGC | ENSP00000251595.6:n.[c.427_*2delinsTAAGC;Ter143=] | |
| ENST00000397806.1:c.331_*2delinsTAAGC | ENSP00000380908.1:n.[c.331_*2delinsTAAGC;Ter111=] | |
| ENST00000482565.1:n.563_567delinsTAAGC | ||
| NM_000517.4:c.427_*2delinsTAAGC | NP_000508.1:n.[c.427_*2delinsTAAGC;Ter143=] | |
| NM_000517.6:c.427_*2delinsTAAGC MANE Select | NP_000508.1:n.[c.427_*2delinsTAAGC;Ter143=] |