Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18787556_18787557delinsAA , CM000681.2:g.18787556_18787557delinsAA | GRCh38 |
| NC_000019.9:g.18898365_18898366delinsAA , CM000681.1:g.18898365_18898366delinsAA | GRCh37 |
| NC_000019.8:g.18759365_18759366delinsAA | NCBI36 |
| NG_007070.1:g.8749_8750delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1069_1070delinsTT MANE Select | ENSP00000222271.2:p.Asp357Phe | |
| ENST00000222271.6:c.1069_1070delinsTT | ENSP00000222271.2:p.Asp357Phe | |
| ENST00000425807.1:c.910_911delinsTT | ENSP00000403792.1:p.Asp304Phe | |
| ENST00000542601.6:c.970_971delinsTT | ENSP00000439156.2:p.Asp324Phe | |
| NM_000095.2:c.1069_1070delinsTT | NP_000086.2:p.Asp357Phe | |
| NM_000095.3:c.1069_1070delinsTT MANE Select | NP_000086.2:p.Asp357Phe |