Linked Data
ClinVar Variation Id:
189765
ClinVar RCV Id:
RCV000170282
dbSNP Id:
rs786205038
MyVariant Identifiers:
chrX:g.153363096_153363100dupCGGCG (hg19)
chrX:g.153363095_153363096insCGGCG (hg19)
chrX:g.154097639_154097643dupCGGCG (hg38)
chrX:g.154097638_154097639insCGGCG (hg38)
PubMed:
PMID:15857422
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154097644_154097648dup , CM000685.2:g.154097644_154097648dup | GRCh38 |
| NC_000023.10:g.153363101_153363105dup , CM000685.1:g.153363101_153363105dup | GRCh37 |
| NC_000023.9:g.153016295_153016299dup | NCBI36 |
| NG_007107.2:g.44479_44483dup | |
| NG_007107.3:g.44461_44465dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000303391.11:c.-138_-134dup MANE Plus Clinical | ENSP00000301948.6:n.-138_-134dup | |
| ENST00000453960.7:c.23_27dup MANE Select | ENSP00000395535.2:p.Ser10ArgfsTer? | |
| ENST00000303391.10:c.-138_-134dup | ENSP00000301948.6:n.-138_-134dup | |
| ENST00000369957.5:c.-138_-134dup | ENSP00000358973.4:n.-138_-134dup | |
| ENST00000407218.5:c.23_27dup | ENSP00000384865.2:p.Ser10ArgfsTer? | |
| ENST00000453960.6:c.23_27dup | ENSP00000395535.2:p.Ser10ArgfsTer? | |
| ENST00000619732.4:c.-138_-134dup | ENSP00000480973.1:n.-138_-134dup | |
| ENST00000627864.1:n.38_42dup | ||
| ENST00000628176.2:c.-138_-134dup | ENSP00000486978.1:n.-138_-134dup | |
| ENST00000631210.1:n.305+7138_305+7142dup | ||
| NM_001110792.1:c.23_27dup | NP_001104262.1:p.Ser10ArgfsTer? | |
| NM_001316337.1:c.-585_-581dup | NP_001303266.1:n.-585_-581dup | |
| NM_004992.3:c.-138_-134dup | NP_004983.1:n.-138_-134dup | |
| XM_005274682.3:c.-529_-525dup | XP_005274739.1:n.-529_-525dup | |
| NM_001110792.2:c.23_27dup MANE Select | NP_001104262.1:p.Ser10ArgfsTer? | |
| NM_001316337.2:c.-585_-581dup | NP_001303266.1:n.-585_-581dup | |
| NM_001369391.2:c.-880_-876dup | NP_001356320.1:n.-880_-876dup | |
| NM_001369392.2:c.-529_-525dup | NP_001356321.1:n.-529_-525dup | |
| NM_001369393.2:c.-405_-401dup | NP_001356322.1:n.-405_-401dup | |
| NM_001386137.1:c.-810_-806dup | NP_001373066.1:n.-810_-806dup | |
| NM_001386138.1:c.-698_-694dup | NP_001373067.1:n.-698_-694dup | |
| NM_001386139.1:c.-574_-570dup | NP_001373068.1:n.-574_-570dup | |
| NM_004992.4:c.-138_-134dup MANE Plus Clinical | NP_004983.1:n.-138_-134dup |