Linked Data
ClinVar Variation Id:
1709820
ClinVar RCV Id:
RCV002290162
dbSNP Id:
rs312262852
MyVariant Identifiers:
chrX:g.13767556_13767557del (hg19)
chrX:g.13767554_13767555del (hg19)
chrX:g.13749437_13749438del (hg38)
chrX:g.13749435_13749436del (hg38)
PubMed:
PMID:20301367
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.13749437_13749438del , CM000685.2:g.13749437_13749438del | GRCh38 |
| NC_000023.10:g.13767556_13767557del , CM000685.1:g.13767556_13767557del | GRCh37 |
| NC_000023.9:g.13677477_13677478del | NCBI36 |
| NG_008872.1:g.19725_19726del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380567.6:c.*532_*533del | ENSP00000369941.2:n.*532_*533del | |
| ENST00000398395.8:c.*532_*533del | ENSP00000381432.5:n.*532_*533del | |
| ENST00000464463.6:n.1122_1123del | ||
| ENST00000490265.6:n.704_705del | ||
| ENST00000682237.1:c.839_840del | ENSP00000507121.1:p.Lys280ArgfsTer28 | |
| ENST00000682562.1:c.*532_*533del | ENSP00000507874.1:n.*532_*533del | |
| ENST00000682953.1:c.*902_*903del | ENSP00000507878.1:n.*902_*903del | |
| ENST00000683055.1:c.734_735del | ENSP00000508191.1:p.Lys245ArgfsTer28 | |
| ENST00000683065.1:n.248_249del | ||
| ENST00000683284.1:c.*406_*407del | ENSP00000507837.1:n.*406_*407del | |
| ENST00000683427.1:c.839_840del | ENSP00000507290.1:p.Lys280ArgfsTer28 | |
| ENST00000683454.1:n.853_854del | ||
| ENST00000683637.1:n.1284_1285del | ||
| ENST00000683655.1:c.*389_*390del | ENSP00000506770.1:n.*389_*390del | |
| ENST00000683713.1:c.*406_*407del | ENSP00000507797.1:n.*406_*407del | |
| ENST00000684577.1:c.*532_*533del | ENSP00000507871.1:n.*532_*533del | |
| ENST00000340096.11:c.839_840del MANE Select | ENSP00000344314.6:p.Lys280ArgfsTer28 | |
| ENST00000340096.10:c.839_840del | ENSP00000344314.6:p.Lys280ArgfsTer28 | |
| ENST00000380550.6:c.839_840del | ENSP00000369923.3:p.Lys280ArgfsTer28 | |
| ENST00000380567.5:c.419_420del | ENSP00000369941.1:p.Lys140ArgfsTer28 | |
| ENST00000398395.7:c.428_429del | ENSP00000381432.4:p.Lys143ArgfsTer28 | |
| ENST00000490265.5:n.1150_1151del | ||
| NM_003611.2:c.839_840del | NP_003602.1:p.Lys280ArgfsTer28 | |
| XM_005274599.2:c.860_861del | XP_005274656.1:p.Lys287ArgfsTer28 | |
| XM_005274602.2:c.860_861del | XP_005274659.1:p.Lys287ArgfsTer28 | |
| XM_005274603.2:c.860_861del | XP_005274660.1:p.Lys287ArgfsTer28 | |
| XM_005274604.2:c.839_840del | XP_005274661.1:p.Lys280ArgfsTer28 | |
| XM_005274606.2:c.695_696del | XP_005274663.1:p.Lys232ArgfsTer28 | |
| XM_005274607.3:c.419_420del | XP_005274664.1:p.Lys140ArgfsTer28 | |
| XM_011545591.1:c.860_861del | XP_011543893.1:p.Lys287ArgfsTer28 | |
| XM_011545592.1:c.647_648del | XP_011543894.1:p.Lys216ArgfsTer28 | |
| XM_011545593.1:c.860_861del | XP_011543895.1:p.Lys287ArgfsTer28 | |
| XM_011545594.1:c.518_519del | XP_011543896.1:p.Lys173ArgfsTer28 | |
| XM_011545595.1:c.518_519del | XP_011543897.1:p.Lys173ArgfsTer28 | |
| XM_011545596.1:c.860_861del | XP_011543898.1:p.Lys287ArgfsTer28 | |
| XM_011545597.1:c.419_420del | XP_011543899.1:p.Lys140ArgfsTer28 | |
| XR_247288.2:n.1199_1200del | ||
| NM_001330209.1:c.839_840del | NP_001317138.1:p.Lys280ArgfsTer28 | |
| NM_001330210.1:c.419_420del | NP_001317139.1:p.Lys140ArgfsTer28 | |
| XM_005274606.4:c.695_696del | XP_005274663.1:p.Lys232ArgfsTer28 | |
| XM_011545592.3:c.647_648del | XP_011543894.1:p.Lys216ArgfsTer28 | |
| XM_011545594.3:c.518_519del | XP_011543896.1:p.Lys173ArgfsTer28 | |
| XM_011545597.2:c.419_420del | XP_011543899.1:p.Lys140ArgfsTer28 | |
| XM_017029909.1:c.419_420del | XP_016885398.1:p.Lys140ArgfsTer28 | |
| XM_024452468.1:c.-1101_-1100del | XP_024308236.1:n.-1101_-1100del | |
| XM_024452469.1:c.-1101_-1100del | XP_024308237.1:n.-1101_-1100del | |
| XM_024452470.1:c.-1101_-1100del | XP_024308238.1:n.-1101_-1100del | |
| XM_024452471.1:c.-1101_-1100del | XP_024308239.1:n.-1101_-1100del | |
| NM_003611.3:c.839_840del MANE Select | NP_003602.1:p.Lys280ArgfsTer28 | |
| NM_001330209.2:c.839_840del | NP_001317138.1:p.Lys280ArgfsTer28 | |
| NM_001330210.2:c.419_420del | NP_001317139.1:p.Lys140ArgfsTer28 |