Linked Data
ClinVar Variation Id:
143605
ClinVar RCV Id:
RCV000133145
dbSNP Id:
rs267608416
MyVariant Identifiers:
chrX:g.153297985dupT (hg19)
chrX:g.153297984_153297985insT (hg19)
chrX:g.154032534dupT (hg38)
chrX:g.154032533_154032534insT (hg38)
PubMed:
PMID:21300488
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154032534dup , CM000685.2:g.154032534dup | GRCh38 |
| NC_000023.10:g.153297985dup , CM000685.1:g.153297985dup | GRCh37 |
| NC_000023.9:g.152951179dup | NCBI36 |
| NG_007107.2:g.109594dup | |
| NG_007107.3:g.109570dup |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700484.1:n.158dup | ||
| ENST00000303391.11:c.50dup MANE Plus Clinical | ENSP00000301948.6:p.Asp17GlufsTer13 | |
| ENST00000453960.7:c.86dup MANE Select | ENSP00000395535.2:p.Asp29GlufsTer13 | |
| ENST00000611468.2:n.298dup | ||
| ENST00000630151.2:c.50dup | ENSP00000486089.1:p.Asp17GlufsTer13 | |
| ENST00000637533.1:n.81dup | ||
| ENST00000675526.1:c.*443dup | ENSP00000501710.1:n.*443dup | |
| ENST00000676382.1:n.243dup | ||
| ENST00000303391.10:c.50dup | ENSP00000301948.6:p.Asp17GlufsTer13 | |
| ENST00000369957.5:c.*104dup | ENSP00000358973.4:n.*104dup | |
| ENST00000407218.5:c.86dup | ENSP00000384865.2:p.Asp29GlufsTer13 | |
| ENST00000415944.3:c.50dup | ENSP00000416267.1:p.Asp17GlufsTer13 | |
| ENST00000453960.6:c.86dup | ENSP00000395535.2:p.Asp29GlufsTer13 | |
| ENST00000460227.4:n.1199dup | ||
| ENST00000463644.5:n.989dup | ||
| ENST00000481807.3:n.336dup | ||
| ENST00000486506.5:n.2398dup | ||
| ENST00000488293.4:n.1099dup | ||
| ENST00000496908.5:n.181dup | ||
| ENST00000611468.1:c.38dup | ENSP00000479736.1:p.Asp13GlufsTer13 | |
| ENST00000619732.4:c.50dup | ENSP00000480973.1:p.Asp17GlufsTer13 | |
| ENST00000622433.4:c.38dup | ENSP00000484470.1:p.Asp13GlufsTer13 | |
| ENST00000625300.1:n.275dup | ||
| ENST00000626422.2:n.760dup | ||
| ENST00000628176.2:c.50dup | ENSP00000486978.1:p.Asp17GlufsTer13 | |
| ENST00000630151.1:c.50dup | ENSP00000486089.1:p.Asp17GlufsTer13 | |
| ENST00000631210.1:n.329dup | ||
| NM_001110792.1:c.86dup | NP_001104262.1:p.Asp29GlufsTer13 | |
| NM_001316337.1:c.-230dup | NP_001303266.1:n.-230dup | |
| NM_004992.3:c.50dup | NP_004983.1:p.Asp17GlufsTer13 | |
| XM_005274681.3:c.50dup | XP_005274738.1:p.Asp17GlufsTer13 | |
| XM_005274682.3:c.-230dup | XP_005274739.1:n.-230dup | |
| XM_005274683.3:c.-230dup | XP_005274740.1:n.-230dup | |
| XM_011531166.1:c.-230dup | XP_011529468.1:n.-230dup | |
| XM_006724819.3:c.-511dup | XP_006724882.1:n.-511dup | |
| XM_011531166.2:c.-230dup | XP_011529468.1:n.-230dup | |
| XM_024452383.1:c.-230dup | XP_024308151.1:n.-230dup | |
| XM_024452384.1:c.-230dup | XP_024308152.1:n.-230dup | |
| NM_001110792.2:c.86dup MANE Select | NP_001104262.1:p.Asp29GlufsTer13 | |
| NM_001316337.2:c.-230dup | NP_001303266.1:n.-230dup | |
| NM_001369391.2:c.-230dup | NP_001356320.1:n.-230dup | |
| NM_001369392.2:c.-230dup | NP_001356321.1:n.-230dup | |
| NM_001369393.2:c.-230dup | NP_001356322.1:n.-230dup | |
| NM_001369394.1:c.-230dup | NP_001356323.1:n.-230dup | |
| NM_001369394.2:c.-230dup | NP_001356323.1:n.-230dup | |
| NM_001386137.1:c.-511dup | NP_001373066.1:n.-511dup | |
| NM_001386138.1:c.-511dup | NP_001373067.1:n.-511dup | |
| NM_001386139.1:c.-511dup | NP_001373068.1:n.-511dup | |
| NM_004992.4:c.50dup MANE Plus Clinical | NP_004983.1:p.Asp17GlufsTer13 |