Linked Data
dbSNP Id:
rs281874736
MyVariant Identifiers:
chrX:g.107930729_107930764dup (hg19)
chrX:g.107930729_107930764dup36 (hg19)
chrX:g.108687499_108687534dup (hg38)
chrX:g.108687499_108687534dup36 (hg38)
PubMed:
PMID:8651296
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108687510_108687545dup , CM000685.2:g.108687510_108687545dup | GRCh38 |
| NC_000023.10:g.107930740_107930775dup , CM000685.1:g.107930740_107930775dup | GRCh37 |
| NC_000023.9:g.107817396_107817431dup | NCBI36 |
| NG_011977.1:g.252587_252622dup | |
| NG_011977.2:g.252587_252622dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.4344_4379dup MANE Select | ENSP00000331902.7:p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProPr... | |
| ENST00000361603.7:c.4326_4361dup | ENSP00000354505.2:p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProPr... | |
| ENST00000510690.2:n.838_873dup | ||
| ENST00000328300.10:c.4344_4379dup | ENSP00000331902.6:p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProPr... | |
| ENST00000361603.6:c.4326_4361dup | ENSP00000354505.2:p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProPr... | |
| ENST00000515658.1:c.140_175dup | ||
| NM_000495.4:c.4326_4361dup | NP_000486.1:p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyPr... | |
| NM_033380.2:c.4344_4379dup | NP_203699.1:p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProProGlyPr... | |
| XM_005262070.2:c.4335_4370dup | XP_005262127.1:p.Gly1457_Thr1458insProAspGlyLeuGlnGlyProProGl... | |
| XM_006724616.2:c.4344_4379dup | XP_006724679.1:p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProProGl... | |
| XM_011530849.1:c.4020_4055dup | XP_011529151.1:p.Gly1352_Thr1353insProAspGlyLeuGlnGlyProProGl... | |
| XM_011530851.1:c.1917_1952dup | XP_011529153.1:p.Gly651_Thr652insProAspGlyLeuGlnGlyProProGlyP... | |
| XM_011530849.2:c.4359_4394dup | XP_011529151.2:p.Gly1465_Thr1466insProAspGlyLeuGlnGlyProProGl... | |
| XM_017029259.2:c.4350_4385dup | XP_016884748.1:p.Gly1462_Thr1463insProAspGlyLeuGlnGlyProProGl... | |
| XM_017029260.1:c.4341_4376dup | XP_016884749.1:p.Gly1459_Thr1460insProAspGlyLeuGlnGlyProProGl... | |
| XM_017029263.2:c.2679_2714dup | XP_016884752.1:p.Gly905_Thr906insProAspGlyLeuGlnGlyProProGlyP... | |
| NM_000495.5:c.4326_4361dup | NP_000486.1:p.Gly1454_Thr1455insProAspGlyLeuGlnGlyProProGlyPr... | |
| NM_033380.3:c.4344_4379dup MANE Select | NP_203699.1:p.Gly1460_Thr1461insProAspGlyLeuGlnGlyProProGlyPr... |