Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.10408718_10408719delinsTT , CM000682.2:g.10408718_10408719delinsTT | GRCh38 |
| NC_000020.10:g.10389366_10389367delinsTT , CM000682.1:g.10389366_10389367delinsTT | GRCh37 |
| NC_000020.9:g.10337366_10337367delinsTT | NCBI36 |
| NG_009109.1:g.30500_30501delinsAA | |
| NG_009109.2:g.30500_30501delinsAA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000651692.1:c.1070_1071delinsAA | ENSP00000498849.1:p.Ser357Ter | |
| ENST00000652676.1:n.714_715delinsAA | ||
| ENST00000347364.7:c.1070_1071delinsAA MANE Select | ENSP00000246062.4:p.Ser357Ter | |
| ENST00000399054.6:c.1070_1071delinsAA | ENSP00000382008.2:p.Ser357Ter | |
| NM_018848.3:c.1070_1071delinsAA | NP_061336.1:p.Ser357Ter | |
| NM_170784.2:c.1070_1071delinsAA | NP_740754.1:p.Ser357Ter | |
| NR_072977.1:n.448_449delinsAA | ||
| NR_072977.2:n.431_432delinsAA | ||
| NM_170784.3:c.1070_1071delinsAA MANE Select | NP_740754.1:p.Ser357Ter |