Canonical Allele Identifier: CA2580100121

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2085455
• ClinVar RCV Id: RCV003005073

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400732del , CM000685.2:g.101400732del	GRCh38
NC_000023.10:g.100655720del , CM000685.1:g.100655720del	GRCh37
NC_000023.9:g.100542376del	NCBI36
NG_007119.1:g.12232del , LRG_672:g.12232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*19del (GLA)	ENSP00000501124.2:n.*19del
ENST00000674127.2:c.*19del (GLA)	ENSP00000501044.2:n.*19del
ENST00000710365.1:c.648del (GLA)	ENSP00000518234.1:p.Asn217IlefsTer?
ENST00000218516.4:c.573del (GLA) MANE Select	ENSP00000218516.4:p.Asn192IlefsTer?
ENST00000466414.2:n.492del (GLA)
ENST00000468823.2:n.1508del (GLA)
ENST00000479445.2:n.970del (GLA)
ENST00000480513.6:c.547+900del (GLA)	ENSP00000497055.1:n.547+900del
ENST00000486121.6:c.618del (GLA)
ENST00000649178.1:c.696del (GLA)	ENSP00000498186.1:p.Asn233IlefsTer?
ENST00000674127.1:c.616del (GLA)	ENSP00000501044.1:n.616del
ENST00000674142.1:n.660del (GLA)
ENST00000674634.2:c.573del (GLA)	ENSP00000502629.2:p.Asn192IlefsTer?
ENST00000675592.1:c.573del (GLA)	ENSP00000502239.1:p.Asn192IlefsTer?
ENST00000675799.1:c.547+900del (GLA)	ENSP00000502661.1:n.547+900del
ENST00000675968.1:n.1508del (GLA)
ENST00000676156.1:c.537del (GLA)	ENSP00000501730.1:p.Asn180IlefsTer?
ENST00000676372.1:c.573del (GLA)	ENSP00000502805.1:p.Asn192IlefsTer?
ENST00000218516.3:c.573del (GLA)	ENSP00000218516.3:p.Asn192IlefsTer?
ENST00000409170.3:c.300+5275del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5275del
ENST00000409338.5:c.177+8910del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8910del
ENST00000468823.1:n.122del (GLA)
ENST00000480513.5:n.477+900del (GLA)
ENST00000486121.5:n.618del (GLA)
ENST00000493905.6:c.573del (GLA)	ENSP00000476935.1:p.Asn192IlefsTer?
NM_000169.2:c.573del , LRG_672t1:c.573del (GLA)	NP_000160.1:p.Asn192IlefsTer?
NM_001199973.1:c.408+5275del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5275del
NM_001199974.1:c.285+8910del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8910del
XR_938397.1:n.601del (GLA)
XR_938397.2:n.622del (GLA)
NM_001199973.2:c.300+5275del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5275del
NM_001199974.2:c.177+8910del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8910del
NM_000169.3:c.573del (GLA) MANE Select	NP_000160.1:p.Asn192IlefsTer?
NR_164783.1:n.595del (GLA)