Canonical Allele Identifier: CA352497

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 3061400
• ClinVar RCV Id: RCV003983408
• dbSNP Id: rs869312458
• MyVariant Identifiers: chrX:g.100653363del (hg19) ; chrX:g.101398375del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398375del , CM000685.2:g.101398375del	GRCh38
NC_000023.10:g.100653363del , CM000685.1:g.100653363del	GRCh37
NC_000023.9:g.100540019del	NCBI36
NG_007119.1:g.14589del , LRG_672:g.14589del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*440del (GLA)	ENSP00000501124.2:n.*440del
ENST00000674127.2:c.*497del (GLA)	ENSP00000501044.2:n.*497del
ENST00000710365.1:c.1069del (GLA)	ENSP00000518234.1:p.Arg357AspfsTer16
ENST00000218516.4:c.994del (GLA) MANE Select	ENSP00000218516.4:p.Arg332AspfsTer16
ENST00000466414.2:n.1130del (GLA)
ENST00000468823.2:n.2146del (GLA)
ENST00000479445.2:n.1608del (GLA)
ENST00000480513.6:c.*302del (GLA)	ENSP00000497055.1:n.*302del
ENST00000486121.6:c.1039del (GLA)
ENST00000649178.1:c.1117del (GLA)	ENSP00000498186.1:p.Arg373AspfsTer16
ENST00000674127.1:c.1094del (GLA)	ENSP00000501044.1:n.1094del
ENST00000674142.1:n.1298del (GLA)
ENST00000674634.2:c.994del (GLA)	ENSP00000502629.2:p.Arg332AspfsTer3
ENST00000675592.1:c.802-276del (GLA)	ENSP00000502239.1:n.802-276del
ENST00000675799.1:c.*519del (GLA)	ENSP00000502661.1:n.*519del
ENST00000675968.1:n.3865del (GLA)
ENST00000676156.1:c.958del (GLA)	ENSP00000501730.1:p.Arg320AspfsTer16
ENST00000676372.1:c.1060del (GLA)	ENSP00000502805.1:n.1060del
ENST00000218516.3:c.994del (GLA)	ENSP00000218516.3:p.Arg332AspfsTer16
ENST00000409170.3:c.300+2918del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2918del
ENST00000409338.5:c.177+6553del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6553del
ENST00000466414.1:n.320del (GLA)
ENST00000493905.6:c.*382del (GLA)	ENSP00000476935.1:n.*382del
NM_000169.2:c.994del , LRG_672t1:c.994del (GLA)	NP_000160.1:p.Arg332AspfsTer16
NM_001199973.1:c.408+2918del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2918del
NM_001199974.1:c.285+6553del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6553del
XR_938397.1:n.1079del (GLA)
XR_938397.2:n.1100del (GLA)
NM_001199973.2:c.300+2918del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2918del
NM_001199974.2:c.177+6553del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6553del
NM_000169.3:c.994del (GLA) MANE Select	NP_000160.1:p.Arg332AspfsTer16
NR_164783.1:n.1073del (GLA)