Canonical Allele Identifier: CA2580100100

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1723954
• ClinVar RCV Id: RCV002306509

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403884del , CM000685.2:g.101403884del	GRCh38
NC_000023.10:g.100658872del , CM000685.1:g.100658872del	GRCh37
NC_000023.9:g.100545528del	NCBI36
NG_007119.1:g.9082del , LRG_672:g.9082del
NG_016327.1:g.682del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.298del (GLA)	ENSP00000501124.2:p.Arg100GlufsTer21
ENST00000674127.2:c.298del (GLA)	ENSP00000501044.2:p.Arg100GlufsTer21
ENST00000710365.1:c.373del (GLA)	ENSP00000518234.1:p.Arg125GlufsTer21
ENST00000218516.4:c.298del (GLA) MANE Select	ENSP00000218516.4:p.Arg100GlufsTer21
ENST00000466414.2:n.217del (GLA)
ENST00000468823.2:n.359del (GLA)
ENST00000479445.2:n.296del (GLA)
ENST00000480513.6:c.298del (GLA)	ENSP00000497055.1:p.Arg100GlufsTer21
ENST00000486121.6:c.228del (GLA)
ENST00000649178.1:c.421del (GLA)	ENSP00000498186.1:p.Arg141GlufsTer21
ENST00000674127.1:c.226del (GLA)	ENSP00000501044.1:p.Arg76GlufsTer21
ENST00000674142.1:n.385del (GLA)
ENST00000674634.2:c.298del (GLA)	ENSP00000502629.2:p.Arg100GlufsTer21
ENST00000675592.1:c.298del (GLA)	ENSP00000502239.1:p.Arg100GlufsTer21
ENST00000675799.1:c.298del (GLA)	ENSP00000502661.1:p.Arg100GlufsTer21
ENST00000675968.1:n.359del (GLA)
ENST00000676156.1:c.298del (GLA)	ENSP00000501730.1:p.Arg100GlufsTer21
ENST00000676372.1:c.298del (GLA)	ENSP00000502805.1:p.Arg100GlufsTer21
ENST00000218516.3:c.298del (GLA)	ENSP00000218516.3:p.Arg100GlufsTer21
ENST00000409170.3:c.301-8052del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-8052del
ENST00000409338.5:c.178-8052del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8052del
ENST00000479445.1:n.282del (GLA)
ENST00000480513.5:n.228del (GLA)
ENST00000486121.5:n.228del (GLA)
ENST00000493905.6:c.298del (GLA)	ENSP00000476935.1:p.Arg100GlufsTer21
NM_000169.2:c.298del , LRG_672t1:c.298del (GLA)	NP_000160.1:p.Arg100GlufsTer21
NM_001199973.1:c.409-8052del (RPL36A-HNRNPH2)	NP_001186902.1:n.409-8052del
NM_001199974.1:c.286-8052del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8052del
XR_938397.1:n.326del (GLA)
XR_938397.2:n.347del (GLA)
NM_001199973.2:c.301-8052del (RPL36A-HNRNPH2)	NP_001186902.2:n.301-8052del
NM_001199974.2:c.178-8052del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8052del
NM_000169.3:c.298del (GLA) MANE Select	NP_000160.1:p.Arg100GlufsTer21
NR_164783.1:n.320del (GLA)