Canonical Allele Identifier: CA121512
Gene: SLC9A6 HGNC NCBI

Linked Data

ClinVar Variation Id: 11479
ClinVar RCV Id: RCV000012234
dbSNP Id: rs730882188
MyVariant Identifiers: chrX:g.135080645_135080646del (hg19) chrX:g.135998486_135998487del (hg38)
PubMed: PMID:10528855 PMID:18342287
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.135998486_135998487del , CM000685.2:g.135998486_135998487del GRCh38
NC_000023.10:g.135080645_135080646del , CM000685.1:g.135080645_135080646del GRCh37
NC_000023.9:g.134908311_134908312del NCBI36
NG_017160.1:g.18060_18061del

Transcript Alleles

HGVS Amino-acid Change
ENST00000370695.8:c.608_609del ENSP00000359729.4:p.His203LeufsTer?
ENST00000370701.6:c.452_453del ENSP00000359735.1:p.His151LeufsTer?
ENST00000630721.3:c.452_453del MANE Select ENSP00000487486.2:p.His151LeufsTer?
ENST00000636092.1:c.452_453del ENSP00000490406.1:p.His151LeufsTer?
ENST00000636347.1:c.452_453del ENSP00000490648.1:p.His151LeufsTer?
ENST00000637195.1:c.356_357del ENSP00000490330.1:p.His119LeufsTer?
ENST00000637234.1:c.452_453del ENSP00000490527.1:p.His151LeufsTer?
ENST00000637581.1:c.452_453del ENSP00000490731.1:p.His151LeufsTer?
ENST00000643775.1:n.395_396del
ENST00000674809.1:c.395_396del ENSP00000502455.1:p.His132LeufsTer?
ENST00000675550.1:n.393_394del
ENST00000675856.1:n.395_396del
ENST00000676043.1:c.395_396del ENSP00000501920.1:p.His132LeufsTer?
ENST00000678163.1:c.608_609del ENSP00000502845.1:p.His203LeufsTer?
ENST00000370695.6:c.608_609del ENSP00000359729.4:p.His203LeufsTer?
ENST00000370698.7:c.512_513del ENSP00000359732.3:p.His171LeufsTer?
ENST00000370701.5:c.452_453del ENSP00000359735.1:p.His151LeufsTer?
ENST00000627534.2:c.452_453del ENSP00000486743.1:p.His151LeufsTer?
NM_001042537.1:c.608_609del NP_001036002.1:p.His203LeufsTer?
NM_001177651.1:c.452_453del NP_001171122.1:p.His151LeufsTer?
NM_006359.2:c.512_513del NP_006350.1:p.His171LeufsTer?
XM_006724726.2:c.452_453del XP_006724789.1:p.His151LeufsTer?
XM_011531243.1:c.356_357del XP_011529545.1:p.His119LeufsTer?
NM_001330652.1:c.356_357del NP_001317581.1:p.His119LeufsTer?
XM_006724726.3:c.452_453del XP_006724789.1:p.His151LeufsTer?
XM_017029223.2:c.452_453del XP_016884712.1:p.His151LeufsTer?
XM_017029224.1:c.452_453del XP_016884713.1:p.His151LeufsTer?
XM_017029225.1:c.356_357del XP_016884714.1:p.His119LeufsTer?
NM_001177651.2:c.452_453del NP_001171122.1:p.His151LeufsTer?
NM_001330652.2:c.356_357del NP_001317581.1:p.His119LeufsTer?
NM_006359.3:c.512_513del NP_006350.1:p.His171LeufsTer?
NM_001042537.2:c.608_609del NP_001036002.1:p.His203LeufsTer?
NM_001379110.1:c.452_453del MANE Select NP_001366039.1:p.His151LeufsTer?
NM_001400909.1:c.452_453del NP_001387838.1:p.His151LeufsTer?
NM_001400910.1:c.452_453del NP_001387839.1:p.His151LeufsTer?
NM_001400911.1:c.452_453del NP_001387840.1:p.His151LeufsTer?
NM_001400912.1:c.452_453del NP_001387841.1:p.His151LeufsTer?
NM_001400913.1:c.356_357del NP_001387842.1:p.His119LeufsTer?
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