Canonical Allele Identifier: CA022279
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 92575
ClinVar RCV Id: RCV000078308 RCV001389325
dbSNP Id: rs398123229
MyVariant Identifiers: chrX:g.100653358_100653361del (hg19) chrX:g.100653358_100653361delCTGT (hg19) chrX:g.101398370_101398373del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101398372_101398375del , CM000685.2:g.101398372_101398375del GRCh38
NC_000023.10:g.100653360_100653363del , CM000685.1:g.100653360_100653363del GRCh37
NC_000023.9:g.100540016_100540019del NCBI36
NG_007119.1:g.14591_14594del , LRG_672:g.14591_14594del

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.*442_*445del (GLA) ENSP00000501124.2:n.*442_*445del
ENST00000674127.2:c.*499_*502del (GLA) ENSP00000501044.2:n.*499_*502del
ENST00000710365.1:c.1071_1074del (GLA) ENSP00000518234.1:p.Gln358GlufsTer14
ENST00000218516.4:c.996_999del (GLA) MANE Select ENSP00000218516.4:p.Gln333GlufsTer14
ENST00000466414.2:n.1132_1135del (GLA)
ENST00000468823.2:n.2148_2151del (GLA)
ENST00000479445.2:n.1610_1613del (GLA)
ENST00000480513.6:c.*304_*307del (GLA) ENSP00000497055.1:n.*304_*307del
ENST00000486121.6:c.1041_1044del (GLA)
ENST00000649178.1:c.1119_1122del (GLA) ENSP00000498186.1:p.Gln374GlufsTer14
ENST00000674127.1:c.1096_1099del (GLA) ENSP00000501044.1:n.1096_1099del
ENST00000674142.1:n.1300_1303del (GLA)
ENST00000674634.2:c.996_999del (GLA) ENSP00000502629.2:p.Gln333Ter
ENST00000675592.1:c.802-274_802-271del (GLA) ENSP00000502239.1:n.802-274_802-271del
ENST00000675799.1:c.*521_*524del (GLA) ENSP00000502661.1:n.*521_*524del
ENST00000675968.1:n.3867_3870del (GLA)
ENST00000676156.1:c.960_963del (GLA) ENSP00000501730.1:p.Gln321GlufsTer14
ENST00000676372.1:c.1062_1065del (GLA) ENSP00000502805.1:n.1062_1065del
ENST00000218516.3:c.996_999del (GLA) ENSP00000218516.3:p.Gln333GlufsTer14
ENST00000409170.3:c.300+2915_300+2918del (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+2915_300+2918del
ENST00000409338.5:c.177+6550_177+6553del (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+6550_177+6553del
ENST00000466414.1:n.322_325del (GLA)
ENST00000493905.6:c.*384_*387del (GLA) ENSP00000476935.1:n.*384_*387del
NM_000169.2:c.996_999del , LRG_672t1:c.996_999del (GLA) NP_000160.1:p.Gln333GlufsTer14
NM_001199973.1:c.408+2915_408+2918del (RPL36A-HNRNPH2) NP_001186902.1:n.408+2915_408+2918del
NM_001199974.1:c.285+6550_285+6553del (RPL36A-HNRNPH2) NP_001186903.1:n.285+6550_285+6553del
XR_938397.1:n.1081_1084del (GLA)
XR_938397.2:n.1102_1105del (GLA)
NM_001199973.2:c.300+2915_300+2918del (RPL36A-HNRNPH2) NP_001186902.2:n.300+2915_300+2918del
NM_001199974.2:c.177+6550_177+6553del (RPL36A-HNRNPH2) NP_001186903.2:n.177+6550_177+6553del
NM_000169.3:c.996_999del (GLA) MANE Select NP_000160.1:p.Gln333GlufsTer14
NR_164783.1:n.1075_1078del (GLA)
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