Canonical Allele Identifier: CA2573055058

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1308628
• ClinVar RCV Id: RCV001754536
• dbSNP Id: rs2147487148

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407762_101407769del , CM000685.2:g.101407762_101407769del	GRCh38
NC_000023.10:g.100662750_100662757del , CM000685.1:g.100662750_100662757del	GRCh37
NC_000023.9:g.100549406_100549413del	NCBI36
NG_007119.1:g.5195_5202del , LRG_672:g.5195_5202del
NG_016327.1:g.4560_4567del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.135_142del (GLA)	ENSP00000501124.2:p.His46AlafsTer7
ENST00000674127.2:c.135_142del (GLA)	ENSP00000501044.2:p.His46AlafsTer7
ENST00000710365.1:c.135_142del (GLA)	ENSP00000518234.1:p.His46AlafsTer7
ENST00000218516.4:c.135_142del (GLA) MANE Select	ENSP00000218516.4:p.His46AlafsTer7
ENST00000466414.2:n.54_61del (GLA)
ENST00000468823.2:n.196_203del (GLA)
ENST00000479445.2:n.133_140del (GLA)
ENST00000480513.6:c.135_142del (GLA)	ENSP00000497055.1:p.His46AlafsTer7
ENST00000486121.6:c.65_72del (GLA)
ENST00000649178.1:c.135_142del (GLA)	ENSP00000498186.1:p.His46AlafsTer7
ENST00000674127.1:c.63_70del (GLA)	ENSP00000501044.1:p.His22AlafsTer7
ENST00000674142.1:n.222_229del (GLA)
ENST00000674634.2:c.135_142del (GLA)	ENSP00000502629.2:p.His46AlafsTer7
ENST00000675592.1:c.135_142del (GLA)	ENSP00000502239.1:p.His46AlafsTer7
ENST00000675799.1:c.135_142del (GLA)	ENSP00000502661.1:p.His46AlafsTer7
ENST00000675968.1:n.196_203del (GLA)
ENST00000676156.1:c.135_142del (GLA)	ENSP00000501730.1:p.His46AlafsTer7
ENST00000676372.1:c.135_142del (GLA)	ENSP00000502805.1:p.His46AlafsTer7
ENST00000218516.3:c.135_142del (GLA)	ENSP00000218516.3:p.His46AlafsTer7
ENST00000409170.3:c.301-4174_301-4167del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4174_301-4167del
ENST00000409338.5:c.178-4174_178-4167del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4174_178-4167del
ENST00000479445.1:n.119_126del (GLA)
ENST00000480513.5:n.65_72del (GLA)
ENST00000486121.5:n.65_72del (GLA)
ENST00000493905.6:c.135_142del (GLA)	ENSP00000476935.1:p.His46AlafsTer7
NM_000169.2:c.135_142del , LRG_672t1:c.135_142del (GLA)	NP_000160.1:p.His46AlafsTer7
NM_001199973.1:c.409-4174_409-4167del (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4174_409-4167del
NM_001199974.1:c.286-4174_286-4167del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4174_286-4167del
XR_938397.1:n.163_170del (GLA)
XR_938397.2:n.184_191del (GLA)
NM_001199973.2:c.301-4174_301-4167del (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4174_301-4167del
NM_001199974.2:c.178-4174_178-4167del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4174_178-4167del
NM_000169.3:c.135_142del (GLA) MANE Select	NP_000160.1:p.His46AlafsTer7
NR_164783.1:n.157_164del (GLA)