Linked Data
ClinVar Variation Id:
156657
ClinVar RCV Id:
RCV002260623
dbSNP Id:
rs398123566
ExAC:
X:153363099 CGCGGCG / C
gnomAD v2:
X-153363099-CGCGGCG-C
gnomAD v3:
X-154097642-CGCGGCG-C
gnomAD v4:
X-154097642-CGCGGCG-C
MyVariant Identifiers:
chrX:g.153363103_153363108del (hg19)
chrX:g.153363100_153363105del (hg19)
chrX:g.154097643_154097648del (hg38)
PubMed:
PMID:17171659
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097657_154097662del , CM000685.2:g.154097657_154097662del | GRCh38 |
| NC_000023.10:g.153363114_153363119del , CM000685.1:g.153363114_153363119del | GRCh37 |
| NC_000023.9:g.153016308_153016313del | NCBI36 |
| NG_007107.2:g.44474_44479del | |
| NG_007107.3:g.44456_44461del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.-143_-138del MANE Plus Clinical | ENSP00000301948.6:n.-143_-138del | |
| ENST00000453960.7:c.18_23del MANE Select | ENSP00000395535.2:p.Ala7_Ala8del | |
| ENST00000303391.10:c.-143_-138del | ENSP00000301948.6:n.-143_-138del | |
| ENST00000369957.5:c.-143_-138del | ENSP00000358973.4:n.-143_-138del | |
| ENST00000407218.5:c.18_23del | ENSP00000384865.2:p.Ala7_Ala8del | |
| ENST00000453960.6:c.18_23del | ENSP00000395535.2:p.Ala7_Ala8del | |
| ENST00000619732.4:c.-143_-138del | ENSP00000480973.1:n.-143_-138del | |
| ENST00000627864.1:n.33_38del | ||
| ENST00000628176.2:c.-143_-138del | ENSP00000486978.1:n.-143_-138del | |
| ENST00000631210.1:n.305+7133_305+7138del | ||
| NM_001110792.1:c.18_23del | NP_001104262.1:p.Ala7_Ala8del | |
| NM_001316337.1:c.-590_-585del | NP_001303266.1:n.-590_-585del | |
| NM_004992.3:c.-143_-138del | NP_004983.1:n.-143_-138del | |
| XM_005274682.3:c.-534_-529del | XP_005274739.1:n.-534_-529del | |
| NM_001110792.2:c.18_23del MANE Select | NP_001104262.1:p.Ala7_Ala8del | |
| NM_001316337.2:c.-590_-585del | NP_001303266.1:n.-590_-585del | |
| NM_001369391.2:c.-885_-880del | NP_001356320.1:n.-885_-880del | |
| NM_001369392.2:c.-534_-529del | NP_001356321.1:n.-534_-529del | |
| NM_001369393.2:c.-410_-405del | NP_001356322.1:n.-410_-405del | |
| NM_001386137.1:c.-815_-810del | NP_001373066.1:n.-815_-810del | |
| NM_001386138.1:c.-703_-698del | NP_001373067.1:n.-703_-698del | |
| NM_001386139.1:c.-579_-574del | NP_001373068.1:n.-579_-574del | |
| NM_004992.4:c.-143_-138del MANE Plus Clinical | NP_004983.1:n.-143_-138del |