Canonical Allele Identifier: CA10607054

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 291188
• ClinVar RCV Id: RCV000329700 ; RCV001388197
• dbSNP Id: rs886044909
• MyVariant Identifiers: chrX:g.100653064del (hg19) ; chrX:g.101398076del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398077del , CM000685.2:g.101398077del	GRCh38
NC_000023.10:g.100653065del , CM000685.1:g.100653065del	GRCh37
NC_000023.9:g.100539721del	NCBI36
NG_007119.1:g.14888del , LRG_672:g.14888del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*469del (GLA)	ENSP00000501124.2:n.*469del
ENST00000674127.2:c.*526del (GLA)	ENSP00000501044.2:n.*526del
ENST00000710365.1:c.1098del (GLA)	ENSP00000518234.1:p.Glu366AspfsTer7
ENST00000218516.4:c.1023del (GLA) MANE Select	ENSP00000218516.4:p.Glu341AspfsTer7
ENST00000466414.2:n.1159del (GLA)
ENST00000468823.2:n.2445del (GLA)
ENST00000479445.2:n.1637del (GLA)
ENST00000480513.6:c.*331del (GLA)	ENSP00000497055.1:n.*331del
ENST00000486121.6:c.1068del (GLA)
ENST00000649178.1:c.1146del (GLA)	ENSP00000498186.1:p.Glu382AspfsTer7
ENST00000674127.1:c.1123del (GLA)	ENSP00000501044.1:n.1123del
ENST00000674142.1:n.1327del (GLA)
ENST00000675592.1:c.825del (GLA)	ENSP00000502239.1:p.Glu275AspfsTer7
ENST00000675799.1:c.*548del (GLA)	ENSP00000502661.1:n.*548del
ENST00000675968.1:n.3894del (GLA)
ENST00000676156.1:c.987del (GLA)	ENSP00000501730.1:p.Glu329AspfsTer7
ENST00000676372.1:c.1089del (GLA)	ENSP00000502805.1:n.1089del
ENST00000218516.3:c.1023del (GLA)	ENSP00000218516.3:p.Glu341AspfsTer7
ENST00000409170.3:c.300+2620del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2620del
ENST00000409338.5:c.177+6255del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6255del
ENST00000466414.1:n.349del (GLA)
ENST00000493905.6:c.*411del (GLA)	ENSP00000476935.1:n.*411del
NM_000169.2:c.1023del , LRG_672t1:c.1023del (GLA)	NP_000160.1:p.Glu341AspfsTer7
NM_001199973.1:c.408+2620del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2620del
NM_001199974.1:c.285+6255del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6255del
XR_938397.1:n.1108del (GLA)
XR_938397.2:n.1129del (GLA)
NM_001199973.2:c.300+2620del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2620del
NM_001199974.2:c.177+6255del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6255del
NM_000169.3:c.1023del (GLA) MANE Select	NP_000160.1:p.Glu341AspfsTer7
NR_164783.1:n.1102del (GLA)