Canonical Allele Identifier: CA16621161
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Linked Data

dbSNP Id: rs1064796601
MyVariant Identifiers: chrX:g.100655670_100655671del (hg19) chrX:g.101400682_101400683del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101400685_101400686del , CM000685.2:g.101400685_101400686del GRCh38
NC_000023.10:g.100655673_100655674del , CM000685.1:g.100655673_100655674del GRCh37
NC_000023.9:g.100542329_100542330del NCBI36
NG_007119.1:g.12281_12282del , LRG_672:g.12281_12282del

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.*68_*69del (GLA) ENSP00000501124.2:n.*68_*69del
ENST00000674127.2:c.*68_*69del (GLA) ENSP00000501044.2:n.*68_*69del
ENST00000710365.1:c.697_698del (GLA) ENSP00000518234.1:p.Met233ValfsTer23
ENST00000218516.4:c.622_623del (GLA) MANE Select ENSP00000218516.4:p.Met208ValfsTer23
ENST00000466414.2:n.541_542del (GLA)
ENST00000468823.2:n.1557_1558del (GLA)
ENST00000479445.2:n.1019_1020del (GLA)
ENST00000480513.6:c.547+949_547+950del (GLA) ENSP00000497055.1:n.547+949_547+950del
ENST00000486121.6:c.667_668del (GLA)
ENST00000649178.1:c.745_746del (GLA) ENSP00000498186.1:p.Met249ValfsTer23
ENST00000674127.1:c.665_666del (GLA) ENSP00000501044.1:n.665_666del
ENST00000674142.1:n.709_710del (GLA)
ENST00000674634.2:c.622_623del (GLA) ENSP00000502629.2:p.Met208ValfsTer23
ENST00000675592.1:c.622_623del (GLA) ENSP00000502239.1:p.Met208ValfsTer23
ENST00000675799.1:c.547+949_547+950del (GLA) ENSP00000502661.1:n.547+949_547+950del
ENST00000675968.1:n.1557_1558del (GLA)
ENST00000676156.1:c.586_587del (GLA) ENSP00000501730.1:p.Met196ValfsTer23
ENST00000676372.1:c.622_623del (GLA) ENSP00000502805.1:p.Met208ValfsTer23
ENST00000218516.3:c.622_623del (GLA) ENSP00000218516.3:p.Met208ValfsTer23
ENST00000409170.3:c.300+5228_300+5229del (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+5228_300+5229del
ENST00000409338.5:c.177+8863_177+8864del (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+8863_177+8864del
ENST00000468823.1:n.171_172del (GLA)
ENST00000480513.5:n.477+949_477+950del (GLA)
ENST00000486121.5:n.667_668del (GLA)
ENST00000493905.6:c.622_623del (GLA) ENSP00000476935.1:p.Met208ValfsTer?
NM_000169.2:c.622_623del , LRG_672t1:c.622_623del (GLA) NP_000160.1:p.Met208ValfsTer23
NM_001199973.1:c.408+5228_408+5229del (RPL36A-HNRNPH2) NP_001186902.1:n.408+5228_408+5229del
NM_001199974.1:c.285+8863_285+8864del (RPL36A-HNRNPH2) NP_001186903.1:n.285+8863_285+8864del
XR_938397.1:n.650_651del (GLA)
XR_938397.2:n.671_672del (GLA)
NM_001199973.2:c.300+5228_300+5229del (RPL36A-HNRNPH2) NP_001186902.2:n.300+5228_300+5229del
NM_001199974.2:c.177+8863_177+8864del (RPL36A-HNRNPH2) NP_001186903.2:n.177+8863_177+8864del
NM_000169.3:c.622_623del (GLA) MANE Select NP_000160.1:p.Met208ValfsTer23
NR_164783.1:n.644_645del (GLA)
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