Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648021_69648022delinsTT , CM000673.2:g.69648021_69648022delinsTT | GRCh38 |
| NC_000011.9:g.69462789_69462790delinsTT , CM000673.1:g.69462789_69462790delinsTT | GRCh37 |
| NC_000011.8:g.69171970_69171971delinsTT | NCBI36 |
| NG_007375.1:g.11917_11918delinsTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.602_603delinsTT MANE Select | ENSP00000227507.2:p.Ser201Phe | |
| ENST00000227507.2:c.602_603delinsTT | ENSP00000227507.2:p.Ser201Phe | |
| ENST00000536559.1:c.*22_*23delinsTT | ENSP00000438482.1:n.*22_*23delinsTT | |
| ENST00000542367.1:n.65_66delinsTT | ||
| ENST00000545484.1:n.308_309delinsTT | ||
| NM_053056.2:c.602_603delinsTT | NP_444284.1:p.Ser201Phe | |
| XM_006718653.2:c.626_627delinsTT | XP_006718716.1:p.Ser209Phe | |
| NM_053056.3:c.602_603delinsTT MANE Select | NP_444284.1:p.Ser201Phe |