Linked Data
ClinVar Variation Id:
423784
dbSNP Id:
rs774054468
ExAC:
X:41089034 T / TA
gnomAD v2:
X-41089034-T-TA
gnomAD v3:
X-41229781-T-TA
gnomAD v4:
X-41229781-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41229788dup , CM000685.2:g.41229788dup | GRCh38 |
| NC_000023.10:g.41089041dup , CM000685.1:g.41089041dup | GRCh37 |
| NC_000023.9:g.40973985dup | NCBI36 |
| NG_012547.1:g.149154dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703986.1:c.7446+9dup | ENSP00000515603.1:n.7446+9dup | |
| ENST00000703987.1:c.7455dup | ENSP00000515604.1:p.Ala2486SerfsTer17 | |
| ENST00000704649.1:c.3685-2599dup | ENSP00000515974.1:n.3685-2599dup | |
| ENST00000704650.1:c.7431+9dup | ENSP00000515975.1:n.7431+9dup | |
| ENST00000704651.1:c.7278+9dup | ENSP00000515976.1:n.7278+9dup | |
| ENST00000704652.1:c.6530+9dup | ||
| ENST00000704654.1:c.4310+9dup | ||
| ENST00000704655.1:c.3574+9dup | ENSP00000515980.1:n.3574+9dup | |
| ENST00000704656.1:c.2882+9dup | ENSP00000515981.1:n.2882+9dup | |
| ENST00000324545.9:c.7440dup | ENSP00000316357.6:p.Ala2481SerfsTer17 | |
| ENST00000378308.7:c.7431+9dup MANE Select | ENSP00000367558.2:n.7431+9dup | |
| ENST00000324545.8:c.7440dup | ENSP00000316357.6:p.Ala2481SerfsTer17 | |
| ENST00000378308.6:c.7431+9dup | ENSP00000367558.2:n.7431+9dup | |
| ENST00000485180.1:n.649dup | ||
| NM_001039590.2:c.7440dup | NP_001034679.2:p.Ala2481SerfsTer17 | |
| NM_001039591.2:c.7431+9dup | NP_001034680.2:n.7431+9dup | |
| XM_005272675.3:c.7455dup | XP_005272732.1:p.Ala2486SerfsTer17 | |
| XM_005272676.3:c.7446+9dup | XP_005272733.1:n.7446+9dup | |
| XM_005272675.4:c.7455dup | XP_005272732.1:p.Ala2486SerfsTer17 | |
| XM_005272676.4:c.7446+9dup | XP_005272733.1:n.7446+9dup | |
| NM_001039591.3:c.7431+9dup MANE Select | NP_001034680.2:n.7431+9dup | |
| NM_001039590.3:c.7440dup | NP_001034679.2:p.Ala2481SerfsTer17 |