Canonical Allele Identifier: CA2695235915

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407766_101407770delinsCGAGC , CM000685.2:g.101407766_101407770delinsCGAGC	GRCh38
NC_000023.10:g.100662754_100662758delinsCGAGC , CM000685.1:g.100662754_100662758delinsCGAGC	GRCh37
NC_000023.9:g.100549410_100549414delinsCGAGC	NCBI36
NG_007119.1:g.5194_5198delinsGCTCG , LRG_672:g.5194_5198delinsGCTCG
NG_016327.1:g.4564_4568delinsCGAGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.134_138delinsGCTCG (GLA)	ENSP00000501124.2:p.Leu45_His46delinsArgSer
ENST00000674127.2:c.134_138delinsGCTCG (GLA)	ENSP00000501044.2:p.Leu45_His46delinsArgSer
ENST00000710365.1:c.134_138delinsGCTCG (GLA)	ENSP00000518234.1:p.Leu45_His46delinsArgSer
ENST00000218516.4:c.134_138delinsGCTCG (GLA) MANE Select	ENSP00000218516.4:p.Leu45_His46delinsArgSer
ENST00000466414.2:n.53_57delinsGCTCG (GLA)
ENST00000468823.2:n.195_199delinsGCTCG (GLA)
ENST00000479445.2:n.132_136delinsGCTCG (GLA)
ENST00000480513.6:c.134_138delinsGCTCG (GLA)	ENSP00000497055.1:p.Leu45_His46delinsArgSer
ENST00000486121.6:c.64_68delinsGCTCG (GLA)
ENST00000649178.1:c.134_138delinsGCTCG (GLA)	ENSP00000498186.1:p.Leu45_His46delinsArgSer
ENST00000674127.1:c.62_66delinsGCTCG (GLA)	ENSP00000501044.1:p.Leu21_His22delinsArgSer
ENST00000674142.1:n.221_225delinsGCTCG (GLA)
ENST00000674634.2:c.134_138delinsGCTCG (GLA)	ENSP00000502629.2:p.Leu45_His46delinsArgSer
ENST00000675592.1:c.134_138delinsGCTCG (GLA)	ENSP00000502239.1:p.Leu45_His46delinsArgSer
ENST00000675799.1:c.134_138delinsGCTCG (GLA)	ENSP00000502661.1:p.Leu45_His46delinsArgSer
ENST00000675968.1:n.195_199delinsGCTCG (GLA)
ENST00000676156.1:c.134_138delinsGCTCG (GLA)	ENSP00000501730.1:p.Leu45_His46delinsArgSer
ENST00000676372.1:c.134_138delinsGCTCG (GLA)	ENSP00000502805.1:p.Leu45_His46delinsArgSer
ENST00000218516.3:c.134_138delinsGCTCG (GLA)	ENSP00000218516.3:p.Leu45_His46delinsArgSer
ENST00000409170.3:c.301-4170_301-4166delinsCGAGC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4170_301-4166delinsCGAGC
ENST00000409338.5:c.178-4170_178-4166delinsCGAGC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4170_178-4166delinsCGAGC
ENST00000479445.1:n.118_122delinsGCTCG (GLA)
ENST00000480513.5:n.64_68delinsGCTCG (GLA)
ENST00000486121.5:n.64_68delinsGCTCG (GLA)
ENST00000493905.6:c.134_138delinsGCTCG (GLA)	ENSP00000476935.1:p.Leu45_His46delinsArgSer
NM_000169.2:c.134_138delinsGCTCG , LRG_672t1:c.134_138delinsGCTCG (GLA)	NP_000160.1:p.Leu45_His46delinsArgSer
NM_001199973.1:c.409-4170_409-4166delinsCGAGC (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4170_409-4166delinsCGAGC
NM_001199974.1:c.286-4170_286-4166delinsCGAGC (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4170_286-4166delinsCGAGC
XR_938397.1:n.162_166delinsGCTCG (GLA)
XR_938397.2:n.183_187delinsGCTCG (GLA)
NM_001199973.2:c.301-4170_301-4166delinsCGAGC (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4170_301-4166delinsCGAGC
NM_001199974.2:c.178-4170_178-4166delinsCGAGC (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4170_178-4166delinsCGAGC
NM_000169.3:c.134_138delinsGCTCG (GLA) MANE Select	NP_000160.1:p.Leu45_His46delinsArgSer
NR_164783.1:n.156_160delinsGCTCG (GLA)