Canonical Allele Identifier: CA2448298805

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400674_101400685delinsAGGGCCACATAT , CM000685.2:g.101400674_101400685delinsAGGGCCACATAT	GRCh38
NC_000023.10:g.100655662_100655673delinsAGGGCCACATAT , CM000685.1:g.100655662_100655673delinsAGGGCCACATAT	GRCh37
NC_000023.9:g.100542318_100542329delinsAGGGCCACATAT	NCBI36
NG_007119.1:g.12279_12290delinsATATGTGGCCCT , LRG_672:g.12279_12290delinsATATGTGGCCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*66_*77delinsATATGTGGCCCT (GLA)	ENSP00000501124.2:n.*66_*77delinsATATGTGGCCCT
ENST00000674127.2:c.*66_*77delinsATATGTGGCCCT (GLA)	ENSP00000501044.2:n.*66_*77delinsATATGTGGCCCT
ENST00000710365.1:c.695_706delinsATATGTGGCCCT (GLA)	ENSP00000518234.1:p.Tyr232=
ENST00000218516.4:c.620_631delinsATATGTGGCCCT (GLA) MANE Select	ENSP00000218516.4:p.Tyr207=
ENST00000466414.2:n.539_550delinsATATGTGGCCCT (GLA)
ENST00000468823.2:n.1555_1566delinsATATGTGGCCCT (GLA)
ENST00000479445.2:n.1017_1028delinsATATGTGGCCCT (GLA)
ENST00000480513.6:c.547+947_547+958delinsATATGTGGCCCT (GLA)	ENSP00000497055.1:n.547+947_547+958delinsATATGTGGCCCT
ENST00000486121.6:c.665_676delinsATATGTGGCCCT (GLA)
ENST00000649178.1:c.743_754delinsATATGTGGCCCT (GLA)	ENSP00000498186.1:p.Tyr248=
ENST00000674127.1:c.663_674delinsATATGTGGCCCT (GLA)	ENSP00000501044.1:n.663_674delinsATATGTGGCCCT
ENST00000674142.1:n.707_718delinsATATGTGGCCCT (GLA)
ENST00000674634.2:c.620_631delinsATATGTGGCCCT (GLA)	ENSP00000502629.2:p.Tyr207=
ENST00000675592.1:c.620_631delinsATATGTGGCCCT (GLA)	ENSP00000502239.1:p.Tyr207=
ENST00000675799.1:c.547+947_547+958delinsATATGTGGCCCT (GLA)	ENSP00000502661.1:n.547+947_547+958delinsATATGTGGCCCT
ENST00000675968.1:n.1555_1566delinsATATGTGGCCCT (GLA)
ENST00000676156.1:c.584_595delinsATATGTGGCCCT (GLA)	ENSP00000501730.1:p.Tyr195=
ENST00000676372.1:c.620_631delinsATATGTGGCCCT (GLA)	ENSP00000502805.1:p.Tyr207=
ENST00000218516.3:c.620_631delinsATATGTGGCCCT (GLA)	ENSP00000218516.3:p.Tyr207=
ENST00000409170.3:c.300+5217_300+5228delinsAGGGCCACATAT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5217_300+5228delinsAGGGCCACATAT
ENST00000409338.5:c.177+8852_177+8863delinsAGGGCCACATAT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8852_177+8863delinsAGGGCCACATAT
ENST00000468823.1:n.169_180delinsATATGTGGCCCT (GLA)
ENST00000480513.5:n.477+947_477+958delinsATATGTGGCCCT (GLA)
ENST00000486121.5:n.665_676delinsATATGTGGCCCT (GLA)
ENST00000493905.6:c.620_631delinsATATGTGGCCCT (GLA)	ENSP00000476935.1:p.Tyr207=
NM_000169.2:c.620_631delinsATATGTGGCCCT , LRG_672t1:c.620_631delinsATATGTGGCCCT (GLA)	NP_000160.1:p.Tyr207=
NM_001199973.1:c.408+5217_408+5228delinsAGGGCCACATAT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5217_408+5228delinsAGGGCCACATAT
NM_001199974.1:c.285+8852_285+8863delinsAGGGCCACATAT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8852_285+8863delinsAGGGCCACATAT
XR_938397.1:n.648_659delinsATATGTGGCCCT (GLA)
XR_938397.2:n.669_680delinsATATGTGGCCCT (GLA)
NM_001199973.2:c.300+5217_300+5228delinsAGGGCCACATAT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5217_300+5228delinsAGGGCCACATAT
NM_001199974.2:c.177+8852_177+8863delinsAGGGCCACATAT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8852_177+8863delinsAGGGCCACATAT
NM_000169.3:c.620_631delinsATATGTGGCCCT (GLA) MANE Select	NP_000160.1:p.Tyr207=
NR_164783.1:n.642_653delinsATATGTGGCCCT (GLA)