Linked Data
ClinVar Variation Id:
143396
dbSNP Id:
rs267608406
gnomAD v2:
X-153296099-CGGGCTCAGGTGGAGGTGG-C
gnomAD v3:
X-154030648-CGGGCTCAGGTGGAGGTGG-C
gnomAD v4:
X-154030648-CGGGCTCAGGTGGAGGTGG-C
MyVariant Identifiers:
chrX:g.153296100_153296117del (hg19)
chrX:g.154030650_154030667del (hg38)
chrX:g.154030649_154030666del (hg38)
PubMed:
PMID:21160487
ERepo:
CA170191/MONDO:0010726/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154030653_154030670del , CM000685.2:g.154030653_154030670del | GRCh38 |
| NC_000023.10:g.153296104_153296121del , CM000685.1:g.153296104_153296121del | GRCh37 |
| NC_000023.9:g.152949298_152949315del | NCBI36 |
| NG_007107.2:g.111462_111479del | |
| NG_007107.3:g.111438_111455del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.1162_1179del MANE Plus Clinical | ENSP00000301948.6:p.Pro388_Pro393del | |
| ENST00000453960.7:c.1198_1215del MANE Select | ENSP00000395535.2:p.Pro400_Pro405del | |
| ENST00000303391.10:c.1162_1179del | ENSP00000301948.6:p.Pro388_Pro393del | |
| ENST00000407218.5:c.*534_*551del | ENSP00000384865.2:n.*534_*551del | |
| ENST00000453960.6:c.1198_1215del | ENSP00000395535.2:p.Pro400_Pro405del | |
| ENST00000619732.4:c.1162_1179del | ENSP00000480973.1:p.Pro388_Pro393del | |
| ENST00000628176.2:c.*534_*551del | ENSP00000486978.1:n.*534_*551del | |
| NM_001110792.1:c.1198_1215del | NP_001104262.1:p.Pro400_Pro405del | |
| NM_001316337.1:c.883_900del | NP_001303266.1:p.Pro295_Pro300del | |
| NM_004992.3:c.1162_1179del | NP_004983.1:p.Pro388_Pro393del | |
| XM_005274681.3:c.1162_1179del | XP_005274738.1:p.Pro388_Pro393del | |
| XM_005274682.3:c.883_900del | XP_005274739.1:p.Pro295_Pro300del | |
| XM_005274683.3:c.883_900del | XP_005274740.1:p.Pro295_Pro300del | |
| XM_006724819.2:c.493_510del | XP_006724882.1:p.Pro165_Pro170del | |
| XM_011531166.1:c.883_900del | XP_011529468.1:p.Pro295_Pro300del | |
| XM_006724819.3:c.493_510del | XP_006724882.1:p.Pro165_Pro170del | |
| XM_011531166.2:c.883_900del | XP_011529468.1:p.Pro295_Pro300del | |
| XM_024452383.1:c.883_900del | XP_024308151.1:p.Pro295_Pro300del | |
| XM_024452384.1:c.883_900del | XP_024308152.1:p.Pro295_Pro300del | |
| NM_001110792.2:c.1198_1215del MANE Select | NP_001104262.1:p.Pro400_Pro405del | |
| NM_001316337.2:c.883_900del | NP_001303266.1:p.Pro295_Pro300del | |
| NM_001369391.2:c.883_900del | NP_001356320.1:p.Pro295_Pro300del | |
| NM_001369392.2:c.883_900del | NP_001356321.1:p.Pro295_Pro300del | |
| NM_001369393.2:c.883_900del | NP_001356322.1:p.Pro295_Pro300del | |
| NM_001369394.1:c.883_900del | NP_001356323.1:p.Pro295_Pro300del | |
| NM_001369394.2:c.883_900del | NP_001356323.1:p.Pro295_Pro300del | |
| NM_001386137.1:c.493_510del | NP_001373066.1:p.Pro165_Pro170del | |
| NM_001386138.1:c.493_510del | NP_001373067.1:p.Pro165_Pro170del | |
| NM_001386139.1:c.493_510del | NP_001373068.1:p.Pro165_Pro170del | |
| NM_004992.4:c.1162_1179del MANE Plus Clinical | NP_004983.1:p.Pro388_Pro393del |