Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.119413992_119413993insTT , CM000665.2:g.119413992_119413993insTT | GRCh38 |
| NC_000003.11:g.119132839_119132840insTT , CM000665.1:g.119132839_119132840insTT | GRCh37 |
| NC_000003.10:g.120615529_120615530insTT | NCBI36 |
| NG_007665.2:g.124620_124621insTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264245.9:c.2063_2064insTT MANE Select | ENSP00000264245.4:p.Ser689Ter | |
| ENST00000264245.8:c.2063_2064insTT | ENSP00000264245.4:p.Ser689Ter | |
| NM_020754.3:c.2063_2064insTT | NP_065805.2:p.Ser689Ter | |
| XM_005247671.3:c.1970_1971insTT | XP_005247728.1:p.Ser658Ter | |
| XM_006713714.2:c.2003_2004insTT | XP_006713777.1:p.Ser669Ter | |
| XM_006713714.3:c.2003_2004insTT | XP_006713777.1:p.Ser669Ter | |
| XM_017006955.1:c.1571_1572insTT | XP_016862444.1:p.Ser525Ter | |
| NM_020754.4:c.2063_2064insTT MANE Select | NP_065805.2:p.Ser689Ter |