Canonical Allele Identifier: CA2535348521

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101406462_101406464dup , CM000685.2:g.101406462_101406464dup	GRCh38
NC_000023.10:g.100661450_100661452dup , CM000685.1:g.100661450_100661452dup	GRCh37
NC_000023.9:g.100548106_100548108dup	NCBI36
NG_007119.1:g.6500_6502dup , LRG_672:g.6500_6502dup
NG_016327.1:g.3260_3262dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.194+1246_194+1248dup (GLA)	ENSP00000501124.2:n.194+1246_194+1248dup
ENST00000674127.2:c.194+1246_194+1248dup (GLA)	ENSP00000501044.2:n.194+1246_194+1248dup
ENST00000710365.1:c.195-1231_195-1229dup (GLA)	ENSP00000518234.1:n.195-1231_195-1229dup
ENST00000218516.4:c.194+1246_194+1248dup (GLA) MANE Select	ENSP00000218516.4:n.194+1246_194+1248dup
ENST00000466414.2:n.113+1246_113+1248dup (GLA)
ENST00000468823.2:n.255+1246_255+1248dup (GLA)
ENST00000479445.2:n.192+1246_192+1248dup (GLA)
ENST00000480513.6:c.194+1246_194+1248dup (GLA)	ENSP00000497055.1:n.194+1246_194+1248dup
ENST00000486121.6:c.124+1246_124+1248dup (GLA)
ENST00000649178.1:c.195-1231_195-1229dup (GLA)	ENSP00000498186.1:n.195-1231_195-1229dup
ENST00000674127.1:c.122+1246_122+1248dup (GLA)	ENSP00000501044.1:n.122+1246_122+1248dup
ENST00000674142.1:n.281+1246_281+1248dup (GLA)
ENST00000674634.2:c.194+1246_194+1248dup (GLA)	ENSP00000502629.2:n.194+1246_194+1248dup
ENST00000675592.1:c.194+1246_194+1248dup (GLA)	ENSP00000502239.1:n.194+1246_194+1248dup
ENST00000675799.1:c.194+1246_194+1248dup (GLA)	ENSP00000502661.1:n.194+1246_194+1248dup
ENST00000675968.1:n.255+1246_255+1248dup (GLA)
ENST00000676156.1:c.194+1246_194+1248dup (GLA)	ENSP00000501730.1:n.194+1246_194+1248dup
ENST00000676372.1:c.194+1246_194+1248dup (GLA)	ENSP00000502805.1:n.194+1246_194+1248dup
ENST00000218516.3:c.194+1246_194+1248dup (GLA)	ENSP00000218516.3:n.194+1246_194+1248dup
ENST00000409170.3:c.301-5474_301-5472dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-5474_301-5472dup
ENST00000409338.5:c.178-5474_178-5472dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-5474_178-5472dup
ENST00000479445.1:n.178+1246_178+1248dup (GLA)
ENST00000480513.5:n.124+1246_124+1248dup (GLA)
ENST00000486121.5:n.124+1246_124+1248dup (GLA)
ENST00000493905.6:c.194+1246_194+1248dup (GLA)	ENSP00000476935.1:n.194+1246_194+1248dup
NM_000169.2:c.194+1246_194+1248dup , LRG_672t1:c.194+1246_194+1248dup (GLA)	NP_000160.1:n.194+1246_194+1248dup
NM_001199973.1:c.409-5474_409-5472dup (RPL36A-HNRNPH2)	NP_001186902.1:n.409-5474_409-5472dup
NM_001199974.1:c.286-5474_286-5472dup (RPL36A-HNRNPH2)	NP_001186903.1:n.286-5474_286-5472dup
XR_938397.1:n.222+1246_222+1248dup (GLA)
XR_938397.2:n.243+1246_243+1248dup (GLA)
NM_001199973.2:c.301-5474_301-5472dup (RPL36A-HNRNPH2)	NP_001186902.2:n.301-5474_301-5472dup
NM_001199974.2:c.178-5474_178-5472dup (RPL36A-HNRNPH2)	NP_001186903.2:n.178-5474_178-5472dup
NM_000169.3:c.194+1246_194+1248dup (GLA) MANE Select	NP_000160.1:n.194+1246_194+1248dup
NR_164783.1:n.216+1246_216+1248dup (GLA)