MyVariant.info:
GRCh38
chrX:g.49075143dupA
GRCh38
chrX:g.49075142_49075143insA
GRCh37
chrX:g.48932802dupA
GRCh37
chrX:g.48932801_48932802insA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.49075143dup , CM000685.2:g.49075143dup | GRCh38 |
| NC_000023.10:g.48932802dup , CM000685.1:g.48932802dup | GRCh37 |
| NC_000023.9:g.48819746dup | NCBI36 |
| NG_033004.1:g.30258dup | |
| NG_033004.2:g.31028dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376372.9:c.966dup MANE Select | ENSP00000365551.3:p.Val323CysfsTer18 | |
| ENST00000322995.13:c.999dup | ENSP00000365543.5:p.Val334CysfsTer18 | |
| ENST00000356463.7:c.969dup | ENSP00000348848.3:p.Val324CysfsTer18 | |
| ENST00000367375.8:c.745dup | ||
| ENST00000376358.4:c.521+221dup | ENSP00000365536.3:n.521+221dup | |
| ENST00000376368.7:c.969dup | ENSP00000365546.2:p.Val324CysfsTer18 | |
| ENST00000376372.8:c.966dup | ENSP00000365551.3:p.Val323CysfsTer18 | |
| ENST00000396681.9:c.849dup | ENSP00000379913.5:p.Val284CysfsTer18 | |
| ENST00000433252.7:n.622dup | ||
| ENST00000465806.6:n.2123dup | ||
| ENST00000473974.5:c.726-231dup | ENSP00000417211.1:n.726-231dup | |
| ENST00000475977.2:c.323+221dup | ENSP00000417754.2:n.323+221dup | |
| ENST00000485908.6:c.861dup | ENSP00000419897.1:p.Val288CysfsTer18 | |
| ENST00000486337.6:c.154dup | ||
| ENST00000634559.1:c.753dup | ENSP00000488986.1:p.Val252CysfsTer18 | |
| ENST00000634838.1:c.924dup | ENSP00000489268.1:p.Val309CysfsTer18 | |
| ENST00000634852.1:n.663dup | ||
| ENST00000634944.1:c.966dup | ENSP00000488972.1:p.Val323CysfsTer18 | |
| ENST00000635003.1:c.765dup | ENSP00000489080.1:p.Val256CysfsTer18 | |
| NM_001029896.1:c.966dup | NP_001025067.1:p.Val323CysfsTer18 | |
| NM_007075.3:c.969dup | NP_009006.2:p.Val324CysfsTer18 | |
| NM_001029896.2:c.966dup MANE Select | NP_001025067.1:p.Val323CysfsTer18 | |
| NM_007075.4:c.969dup | NP_009006.2:p.Val324CysfsTer18 |