Canonical Allele Identifier: CA2695234963

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2907592
• ClinVar RCV Id: RCV003622157

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400742del , CM000685.2:g.101400742del	GRCh38
NC_000023.10:g.100655730del , CM000685.1:g.100655730del	GRCh37
NC_000023.9:g.100542386del	NCBI36
NG_007119.1:g.12223del , LRG_672:g.12223del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*10del (GLA)	ENSP00000501124.2:n.*10del
ENST00000674127.2:c.*10del (GLA)	ENSP00000501044.2:n.*10del
ENST00000710365.1:c.639del (GLA)	ENSP00000518234.1:p.Leu214TrpfsTer3
ENST00000218516.4:c.564del (GLA) MANE Select	ENSP00000218516.4:p.Leu189TrpfsTer3
ENST00000466414.2:n.483del (GLA)
ENST00000468823.2:n.1499del (GLA)
ENST00000479445.2:n.961del (GLA)
ENST00000480513.6:c.547+891del (GLA)	ENSP00000497055.1:n.547+891del
ENST00000486121.6:c.609del (GLA)
ENST00000649178.1:c.687del (GLA)	ENSP00000498186.1:p.Leu230TrpfsTer3
ENST00000674127.1:c.607del (GLA)	ENSP00000501044.1:n.607del
ENST00000674142.1:n.651del (GLA)
ENST00000674634.2:c.564del (GLA)	ENSP00000502629.2:p.Leu189TrpfsTer3
ENST00000675592.1:c.564del (GLA)	ENSP00000502239.1:p.Leu189TrpfsTer3
ENST00000675799.1:c.547+891del (GLA)	ENSP00000502661.1:n.547+891del
ENST00000675968.1:n.1499del (GLA)
ENST00000676156.1:c.528del (GLA)	ENSP00000501730.1:p.Leu177TrpfsTer3
ENST00000676372.1:c.564del (GLA)	ENSP00000502805.1:p.Leu189TrpfsTer3
ENST00000218516.3:c.564del (GLA)	ENSP00000218516.3:p.Leu189TrpfsTer3
ENST00000409170.3:c.300+5285del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5285del
ENST00000409338.5:c.177+8920del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8920del
ENST00000468823.1:n.113del (GLA)
ENST00000480513.5:n.477+891del (GLA)
ENST00000486121.5:n.609del (GLA)
ENST00000493905.6:c.564del (GLA)	ENSP00000476935.1:p.Leu189TrpfsTer3
NM_000169.2:c.564del , LRG_672t1:c.564del (GLA)	NP_000160.1:p.Leu189TrpfsTer3
NM_001199973.1:c.408+5285del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5285del
NM_001199974.1:c.285+8920del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8920del
XR_938397.1:n.592del (GLA)
XR_938397.2:n.613del (GLA)
NM_001199973.2:c.300+5285del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5285del
NM_001199974.2:c.177+8920del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8920del
NM_000169.3:c.564del (GLA) MANE Select	NP_000160.1:p.Leu189TrpfsTer3
NR_164783.1:n.586del (GLA)