Linked Data
ClinVar Variation Id:
95202
ClinVar RCV Id:
RCV000081211
RCV000168691
RCV000169939
RCV000170113
RCV000624370
RCV000850572
RCV001000009
RCV003333025
RCV002251971
RCV003227637
dbSNP Id:
rs61750241
MyVariant Identifiers:
chrX:g.153296473del (hg19)
chrX:g.153296473delC (hg19)
chrX:g.154031022del (hg38)
PubMed:
PMID:8177735
PMID:10508514
PMID:10577905
PMID:10854091
PMID:10944854
PMID:11035019
PMID:11055898
PMID:11058114
PMID:11227330
PMID:11245712
PMID:11269512
PMID:11462237
PMID:12111643
PMID:12615169
PMID:12746405
PMID:15057977
PMID:15557528
PMID:15558314
PMID:16169931
PMID:16473305
PMID:16832102
PMID:17089071
PMID:17236109
PMID:17267601
PMID:17351020
PMID:17387578
PMID:18337588
PMID:21154482
PMID:21982064
PMID:23262346
PMID:23421866
PMID:24458799
PMID:27354166
ERepo:
CA199475/MONDO:0010726/016
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154031025del , CM000685.2:g.154031025del | GRCh38 |
| NC_000023.10:g.153296476del , CM000685.1:g.153296476del | GRCh37 |
| NC_000023.9:g.152949670del | NCBI36 |
| NG_007107.2:g.111106del | |
| NG_007107.3:g.111082del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303391.11:c.806del MANE Plus Clinical | ENSP00000301948.6:p.Gly269AlafsTer20 | |
| ENST00000453960.7:c.842del MANE Select | ENSP00000395535.2:p.Gly281AlafsTer20 | |
| ENST00000637917.1:c.66-86del | ||
| ENST00000303391.10:c.806del | ENSP00000301948.6:p.Gly269AlafsTer20 | |
| ENST00000407218.5:c.*178del | ENSP00000384865.2:n.*178del | |
| ENST00000453960.6:c.842del | ENSP00000395535.2:p.Gly281AlafsTer20 | |
| ENST00000619732.4:c.806del | ENSP00000480973.1:p.Gly269AlafsTer20 | |
| ENST00000622433.4:c.794del | ENSP00000484470.1:p.Gly265AlafsTer20 | |
| ENST00000628176.2:c.*178del | ENSP00000486978.1:n.*178del | |
| NM_001110792.1:c.842del | NP_001104262.1:p.Gly281AlafsTer20 | |
| NM_001316337.1:c.527del | NP_001303266.1:p.Gly176AlafsTer20 | |
| NM_004992.3:c.806del | NP_004983.1:p.Gly269AlafsTer20 | |
| XM_005274681.3:c.806del | XP_005274738.1:p.Gly269AlafsTer20 | |
| XM_005274682.3:c.527del | XP_005274739.1:p.Gly176AlafsTer20 | |
| XM_005274683.3:c.527del | XP_005274740.1:p.Gly176AlafsTer20 | |
| XM_006724819.2:c.137del | XP_006724882.1:p.Gly46AlafsTer20 | |
| XM_011531166.1:c.527del | XP_011529468.1:p.Gly176AlafsTer20 | |
| XM_006724819.3:c.137del | XP_006724882.1:p.Gly46AlafsTer20 | |
| XM_011531166.2:c.527del | XP_011529468.1:p.Gly176AlafsTer20 | |
| XM_024452383.1:c.527del | XP_024308151.1:p.Gly176AlafsTer20 | |
| XM_024452384.1:c.527del | XP_024308152.1:p.Gly176AlafsTer20 | |
| NM_001110792.2:c.842del MANE Select | NP_001104262.1:p.Gly281AlafsTer20 | |
| NM_001316337.2:c.527del | NP_001303266.1:p.Gly176AlafsTer20 | |
| NM_001369391.2:c.527del | NP_001356320.1:p.Gly176AlafsTer20 | |
| NM_001369392.2:c.527del | NP_001356321.1:p.Gly176AlafsTer20 | |
| NM_001369393.2:c.527del | NP_001356322.1:p.Gly176AlafsTer20 | |
| NM_001369394.1:c.527del | NP_001356323.1:p.Gly176AlafsTer20 | |
| NM_001369394.2:c.527del | NP_001356323.1:p.Gly176AlafsTer20 | |
| NM_001386137.1:c.137del | NP_001373066.1:p.Gly46AlafsTer20 | |
| NM_001386138.1:c.137del | NP_001373067.1:p.Gly46AlafsTer20 | |
| NM_001386139.1:c.137del | NP_001373068.1:p.Gly46AlafsTer20 | |
| NM_004992.4:c.806del MANE Plus Clinical | NP_004983.1:p.Gly269AlafsTer20 |