ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.21697781_21697786delinsA , CM000678.2:g.21697781_21697786delinsA | GRCh38 |
| NC_000016.9:g.21709102_21709107delinsA , CM000678.1:g.21709102_21709107delinsA | GRCh37 |
| NC_000016.8:g.21616603_21616608delinsA | NCBI36 |
| NG_012973.1:g.24268_24273delinsA | |
| NG_012973.2:g.38649_38654delinsA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000388958.8:c.746_751delinsA | ENSP00000373610.3:p.Ser249TyrfsTer21 | |
| ENST00000646100.2:c.746_751delinsA MANE Select | ENSP00000496564.2:p.Ser249TyrfsTer21 | |
| ENST00000647277.1:c.746_751delinsA | ENSP00000495594.1:p.Ser249TyrfsTer21 | |
| ENST00000286149.8:c.746_751delinsA | ENSP00000286149.4:p.Ser249TyrfsTer21 | |
| ENST00000388956.8:c.509_514delinsA | ENSP00000373608.4:p.Ser170TyrfsTer21 | |
| ENST00000388958.7:c.746_751delinsA | ENSP00000373610.3:p.Ser249TyrfsTer21 | |
| NM_001161683.1:c.509_514delinsA | NP_001155155.1:p.Ser170TyrfsTer21 | |
| NM_144672.3:c.746_751delinsA | NP_653273.3:p.Ser249TyrfsTer21 | |
| XM_011545747.1:c.746_751delinsA | XP_011544049.1:p.Ser249TyrfsTer21 | |
| NM_144672.4:c.746_751delinsA MANE Select | NP_653273.3:p.Ser249TyrfsTer21 | |
| NM_001161683.2:c.509_514delinsA | NP_001155155.1:p.Ser170TyrfsTer21 |