Canonical Allele Identifier: CA2448301179

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407650_101407660delinsCCCCAAACACA , CM000685.2:g.101407650_101407660delinsCCCCAAACACA	GRCh38
NC_000023.10:g.100662638_100662648delinsCCCCAAACACA , CM000685.1:g.100662638_100662648delinsCCCCAAACACA	GRCh37
NC_000023.9:g.100549294_100549304delinsCCCCAAACACA	NCBI36
NG_007119.1:g.5304_5314delinsTGTGTTTGGGG , LRG_672:g.5304_5314delinsTGTGTTTGGGG
NG_016327.1:g.4448_4458delinsCCCCAAACACA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000501124.2:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000674127.2:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000501044.2:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000710365.1:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000518234.1:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000218516.4:c.194+50_194+60delinsTGTGTTTGGGG (GLA) MANE Select	ENSP00000218516.4:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000466414.2:n.113+50_113+60delinsTGTGTTTGGGG (GLA)
ENST00000468823.2:n.255+50_255+60delinsTGTGTTTGGGG (GLA)
ENST00000479445.2:n.192+50_192+60delinsTGTGTTTGGGG (GLA)
ENST00000480513.6:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000497055.1:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000486121.6:c.124+50_124+60delinsTGTGTTTGGGG (GLA)
ENST00000649178.1:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000498186.1:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000674127.1:c.122+50_122+60delinsTGTGTTTGGGG (GLA)	ENSP00000501044.1:n.122+50_122+60delinsTGTGTTTGGGG
ENST00000674142.1:n.281+50_281+60delinsTGTGTTTGGGG (GLA)
ENST00000674634.2:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000502629.2:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000675592.1:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000502239.1:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000675799.1:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000502661.1:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000675968.1:n.255+50_255+60delinsTGTGTTTGGGG (GLA)
ENST00000676156.1:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000501730.1:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000676372.1:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000502805.1:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000218516.3:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000218516.3:n.194+50_194+60delinsTGTGTTTGGGG
ENST00000409170.3:c.301-4286_301-4276delinsCCCCAAACACA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4286_301-4276delinsCCCCAAACACA
ENST00000409338.5:c.178-4286_178-4276delinsCCCCAAACACA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4286_178-4276delinsCCCCAAACACA
ENST00000479445.1:n.178+50_178+60delinsTGTGTTTGGGG (GLA)
ENST00000480513.5:n.124+50_124+60delinsTGTGTTTGGGG (GLA)
ENST00000486121.5:n.124+50_124+60delinsTGTGTTTGGGG (GLA)
ENST00000493905.6:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	ENSP00000476935.1:n.194+50_194+60delinsTGTGTTTGGGG
NM_000169.2:c.194+50_194+60delinsTGTGTTTGGGG , LRG_672t1:c.194+50_194+60delinsTGTGTTTGGGG (GLA)	NP_000160.1:n.194+50_194+60delinsTGTGTTTGGGG
NM_001199973.1:c.409-4286_409-4276delinsCCCCAAACACA (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4286_409-4276delinsCCCCAAACACA
NM_001199974.1:c.286-4286_286-4276delinsCCCCAAACACA (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4286_286-4276delinsCCCCAAACACA
XR_938397.1:n.222+50_222+60delinsTGTGTTTGGGG (GLA)
XR_938397.2:n.243+50_243+60delinsTGTGTTTGGGG (GLA)
NM_001199973.2:c.301-4286_301-4276delinsCCCCAAACACA (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4286_301-4276delinsCCCCAAACACA
NM_001199974.2:c.178-4286_178-4276delinsCCCCAAACACA (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4286_178-4276delinsCCCCAAACACA
NM_000169.3:c.194+50_194+60delinsTGTGTTTGGGG (GLA) MANE Select	NP_000160.1:n.194+50_194+60delinsTGTGTTTGGGG
NR_164783.1:n.216+50_216+60delinsTGTGTTTGGGG (GLA)