Canonical Allele Identifier: CA2573159080

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1685852
• ClinVar RCV Id: RCV002250019 ; RCV003403751
• dbSNP Id: rs869312400

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398808del , CM000685.2:g.101398808del	GRCh38
NC_000023.10:g.100653796del , CM000685.1:g.100653796del	GRCh37
NC_000023.9:g.100540452del	NCBI36
NG_007119.1:g.14160del , LRG_672:g.14160del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*228del (GLA)	ENSP00000501124.2:n.*228del
ENST00000674127.2:c.*285del (GLA)	ENSP00000501044.2:n.*285del
ENST00000710365.1:c.857del (GLA)	ENSP00000518234.1:p.Gly286ValfsTer8
ENST00000218516.4:c.782del (GLA) MANE Select	ENSP00000218516.4:p.Gly261ValfsTer8
ENST00000466414.2:n.701del (GLA)
ENST00000468823.2:n.1717del (GLA)
ENST00000479445.2:n.1179del (GLA)
ENST00000480513.6:c.*90del (GLA)	ENSP00000497055.1:n.*90del
ENST00000486121.6:c.827del (GLA)
ENST00000649178.1:c.905del (GLA)	ENSP00000498186.1:p.Gly302ValfsTer8
ENST00000674127.1:c.882del (GLA)	ENSP00000501044.1:n.882del
ENST00000674142.1:n.869del (GLA)
ENST00000674634.2:c.782del (GLA)	ENSP00000502629.2:p.Gly261ValfsTer8
ENST00000675592.1:c.782del (GLA)	ENSP00000502239.1:p.Gly261ValfsTer21
ENST00000675799.1:c.*90del (GLA)	ENSP00000502661.1:n.*90del
ENST00000675968.1:n.3436del (GLA)
ENST00000676156.1:c.746del (GLA)	ENSP00000501730.1:p.Gly249ValfsTer8
ENST00000676372.1:c.782del (GLA)	ENSP00000502805.1:p.Gly261ValfsTer8
ENST00000218516.3:c.782del (GLA)	ENSP00000218516.3:p.Gly261ValfsTer8
ENST00000409170.3:c.300+3351del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3351del
ENST00000409338.5:c.177+6986del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6986del
ENST00000468823.1:n.331del (GLA)
ENST00000493905.6:c.*170del (GLA)	ENSP00000476935.1:n.*170del
NM_000169.2:c.782del , LRG_672t1:c.782del (GLA)	NP_000160.1:p.Gly261ValfsTer8
NM_001199973.1:c.408+3351del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3351del
NM_001199974.1:c.285+6986del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6986del
XR_938397.1:n.867del (GLA)
XR_938397.2:n.888del (GLA)
NM_001199973.2:c.300+3351del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3351del
NM_001199974.2:c.177+6986del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6986del
NM_000169.3:c.782del (GLA) MANE Select	NP_000160.1:p.Gly261ValfsTer8
NR_164783.1:n.861del (GLA)