Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539588_186539589delinsTT , CM000665.2:g.186539588_186539589delinsTT | GRCh38 |
| NC_000003.11:g.186257377_186257378delinsTT , CM000665.1:g.186257377_186257378delinsTT | GRCh37 |
| NC_000003.10:g.187740071_187740072delinsTT | NCBI36 |
| NG_009829.1:g.9790_9791delinsAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.30_31delinsAA MANE Select | ENSP00000312099.5:p.Phe10_Tyr11delinsLeuAsn | |
| ENST00000307944.5:c.30_31delinsAA | ENSP00000312099.5:p.Phe10_Tyr11delinsLeuAsn | |
| ENST00000392499.6:c.30_31delinsAA | ENSP00000376287.2:p.Phe10_Tyr11delinsLeuAsn | |
| ENST00000460288.1:n.932_933delinsAA | ||
| NM_017541.2:c.30_31delinsAA | NP_060011.1:p.Phe10_Tyr11delinsLeuAsn | |
| NM_017541.3:c.30_31delinsAA | NP_060011.1:p.Phe10_Tyr11delinsLeuAsn | |
| NM_017541.4:c.30_31delinsAA MANE Select | NP_060011.1:p.Phe10_Tyr11delinsLeuAsn |