Linked Data
ClinVar Variation Id:
41143
dbSNP Id:
rs312262845
gnomAD v2:
X-13764945-C-CA
gnomAD v3:
X-13746826-C-CA
gnomAD v4:
X-13746826-C-CA
MyVariant Identifiers:
chrX:g.13764954dupA (hg19)
chrX:g.13764946_13764947insA (hg19)
chrX:g.13746835dupA (hg38)
PubMed:
PMID:20301367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13746835dup , CM000685.2:g.13746835dup | GRCh38 |
| NC_000023.10:g.13764954dup , CM000685.1:g.13764954dup | GRCh37 |
| NC_000023.9:g.13674875dup | NCBI36 |
| NG_008872.1:g.17123dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380567.6:c.*403dup | ENSP00000369941.2:n.*403dup | |
| ENST00000398395.8:c.*403dup | ENSP00000381432.5:n.*403dup | |
| ENST00000464463.6:n.993dup | ||
| ENST00000490265.6:n.572dup | ||
| ENST00000682237.1:c.710dup | ENSP00000507121.1:p.Tyr238ValfsTer2 | |
| ENST00000682562.1:c.*403dup | ENSP00000507874.1:n.*403dup | |
| ENST00000682953.1:c.*773dup | ENSP00000507878.1:n.*773dup | |
| ENST00000683055.1:c.605dup | ENSP00000508191.1:p.Tyr203ValfsTer2 | |
| ENST00000683065.1:n.119dup | ||
| ENST00000683284.1:c.*277dup | ENSP00000507837.1:n.*277dup | |
| ENST00000683427.1:c.710dup | ENSP00000507290.1:p.Tyr238ValfsTer2 | |
| ENST00000683454.1:n.724dup | ||
| ENST00000683637.1:n.1155dup | ||
| ENST00000683655.1:c.*260dup | ENSP00000506770.1:n.*260dup | |
| ENST00000683713.1:c.*277dup | ENSP00000507797.1:n.*277dup | |
| ENST00000684577.1:c.*403dup | ENSP00000507871.1:n.*403dup | |
| ENST00000340096.11:c.710dup MANE Select | ENSP00000344314.6:p.Tyr238ValfsTer2 | |
| ENST00000340096.10:c.710dup | ENSP00000344314.6:p.Tyr238ValfsTer2 | |
| ENST00000380550.6:c.710dup | ENSP00000369923.3:p.Tyr238ValfsTer2 | |
| ENST00000380567.5:c.290dup | ENSP00000369941.1:p.Tyr98ValfsTer2 | |
| ENST00000398395.7:c.299dup | ENSP00000381432.4:p.Tyr101ValfsTer2 | |
| ENST00000490265.5:n.1021dup | ||
| NM_003611.2:c.710dup | NP_003602.1:p.Tyr238ValfsTer2 | |
| XM_005274599.2:c.731dup | XP_005274656.1:p.Tyr245ValfsTer2 | |
| XM_005274602.2:c.731dup | XP_005274659.1:p.Tyr245ValfsTer2 | |
| XM_005274603.2:c.731dup | XP_005274660.1:p.Tyr245ValfsTer2 | |
| XM_005274604.2:c.710dup | XP_005274661.1:p.Tyr238ValfsTer2 | |
| XM_005274606.2:c.566dup | XP_005274663.1:p.Tyr190ValfsTer2 | |
| XM_005274607.3:c.290dup | XP_005274664.1:p.Tyr98ValfsTer2 | |
| XM_011545591.1:c.731dup | XP_011543893.1:p.Tyr245ValfsTer2 | |
| XM_011545592.1:c.518dup | XP_011543894.1:p.Tyr174ValfsTer2 | |
| XM_011545593.1:c.731dup | XP_011543895.1:p.Tyr245ValfsTer2 | |
| XM_011545594.1:c.389dup | XP_011543896.1:p.Tyr131ValfsTer2 | |
| XM_011545595.1:c.389dup | XP_011543897.1:p.Tyr131ValfsTer2 | |
| XM_011545596.1:c.731dup | XP_011543898.1:p.Tyr245ValfsTer2 | |
| XM_011545597.1:c.290dup | XP_011543899.1:p.Tyr98ValfsTer2 | |
| XR_247288.2:n.1070dup | ||
| NM_001330209.1:c.710dup | NP_001317138.1:p.Tyr238ValfsTer2 | |
| NM_001330210.1:c.290dup | NP_001317139.1:p.Tyr98ValfsTer2 | |
| XM_005274606.4:c.566dup | XP_005274663.1:p.Tyr190ValfsTer2 | |
| XM_011545592.3:c.518dup | XP_011543894.1:p.Tyr174ValfsTer2 | |
| XM_011545594.3:c.389dup | XP_011543896.1:p.Tyr131ValfsTer2 | |
| XM_011545597.2:c.290dup | XP_011543899.1:p.Tyr98ValfsTer2 | |
| XM_017029909.1:c.290dup | XP_016885398.1:p.Tyr98ValfsTer2 | |
| XM_024452468.1:c.-1230dup | XP_024308236.1:n.-1230dup | |
| XM_024452469.1:c.-1230dup | XP_024308237.1:n.-1230dup | |
| XM_024452470.1:c.-1230dup | XP_024308238.1:n.-1230dup | |
| XM_024452471.1:c.-1230dup | XP_024308239.1:n.-1230dup | |
| NM_003611.3:c.710dup MANE Select | NP_003602.1:p.Tyr238ValfsTer2 | |
| NM_001330209.2:c.710dup | NP_001317138.1:p.Tyr238ValfsTer2 | |
| NM_001330210.2:c.290dup | NP_001317139.1:p.Tyr98ValfsTer2 |