MyVariant.info:
GRCh38
chrX:g.49076432dupT
GRCh38
chrX:g.49076431_49076432insT
GRCh37
chrX:g.48934091dupT
GRCh37
chrX:g.48934090_48934091insT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49076433dup , CM000685.2:g.49076433dup | GRCh38 |
| NC_000023.10:g.48934092dup , CM000685.1:g.48934092dup | GRCh37 |
| NC_000023.9:g.48821036dup | NCBI36 |
| NG_033004.1:g.28969dup | |
| NG_033004.2:g.29739dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376372.9:c.434dup MANE Select | ENSP00000365551.3:p.Leu147AlafsTer3 | |
| ENST00000322995.13:c.434dup | ENSP00000365543.5:p.Ala146GlyfsTer15 | |
| ENST00000356463.7:c.437dup | ENSP00000348848.3:p.Leu148AlafsTer3 | |
| ENST00000367375.8:c.303dup | ||
| ENST00000376358.4:c.131-487dup | ENSP00000365536.3:n.131-487dup | |
| ENST00000376368.7:c.437dup | ENSP00000365546.2:p.Leu148AlafsTer3 | |
| ENST00000376372.8:c.434dup | ENSP00000365551.3:p.Leu147AlafsTer3 | |
| ENST00000396681.9:c.329dup | ENSP00000379913.5:p.Leu112AlafsTer3 | |
| ENST00000419567.7:c.434dup | ENSP00000393640.3:p.Glu147Ter | |
| ENST00000423215.3:c.488dup | ENSP00000397657.3:p.Leu165AlafsTer3 | |
| ENST00000465382.6:c.434dup | ENSP00000420534.1:p.Ala146GlyfsTer? | |
| ENST00000465806.6:n.1591dup | ||
| ENST00000471338.6:c.434dup | ENSP00000418466.2:p.Leu147AlafsTer3 | |
| ENST00000472654.1:n.339dup | ||
| ENST00000473974.5:c.434dup | ENSP00000417211.1:p.Leu147AlafsTer3 | |
| ENST00000474053.6:c.509dup | ENSP00000420728.1:p.Leu172AlafsTer3 | |
| ENST00000475880.6:c.332dup | ENSP00000418919.2:p.Leu113AlafsTer3 | |
| ENST00000476728.5:c.329dup | ENSP00000419324.1:p.Ala111GlyfsTer15 | |
| ENST00000485908.6:c.329dup | ENSP00000419897.1:p.Leu112AlafsTer3 | |
| ENST00000634465.1:n.712dup | ||
| ENST00000634522.1:c.*85dup | ENSP00000489330.1:n.*85dup | |
| ENST00000634559.1:c.236-487dup | ENSP00000488986.1:n.236-487dup | |
| ENST00000634736.1:c.131-487dup | ENSP00000489561.1:n.131-487dup | |
| ENST00000634838.1:c.434dup | ENSP00000489268.1:p.Leu147AlafsTer3 | |
| ENST00000634852.1:n.131dup | ||
| ENST00000634944.1:c.434dup | ENSP00000488972.1:p.Leu147AlafsTer3 | |
| ENST00000635003.1:c.236-487dup | ENSP00000489080.1:n.236-487dup | |
| ENST00000635344.1:c.*85dup | ENSP00000489553.1:n.*85dup | |
| ENST00000635666.1:c.362dup | ENSP00000489128.1:p.Leu123AlafsTer3 | |
| NM_001029896.1:c.434dup | NP_001025067.1:p.Leu147AlafsTer3 | |
| NM_007075.3:c.437dup | NP_009006.2:p.Leu148AlafsTer3 | |
| NM_001029896.2:c.434dup MANE Select | NP_001025067.1:p.Leu147AlafsTer3 | |
| NM_007075.4:c.437dup | NP_009006.2:p.Leu148AlafsTer3 |