Canonical Allele Identifier: CA2448298827

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400701_101400713delinsAGGAGTACACAAT , CM000685.2:g.101400701_101400713delinsAGGAGTACACAAT	GRCh38
NC_000023.10:g.100655689_100655701delinsAGGAGTACACAAT , CM000685.1:g.100655689_100655701delinsAGGAGTACACAAT	GRCh37
NC_000023.9:g.100542345_100542357delinsAGGAGTACACAAT	NCBI36
NG_007119.1:g.12251_12263delinsATTGTGTACTCCT , LRG_672:g.12251_12263delinsATTGTGTACTCCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*38_*50delinsATTGTGTACTCCT (GLA)	ENSP00000501124.2:n.*38_*50delinsATTGTGTACTCCT
ENST00000674127.2:c.*38_*50delinsATTGTGTACTCCT (GLA)	ENSP00000501044.2:n.*38_*50delinsATTGTGTACTCCT
ENST00000710365.1:c.667_679delinsATTGTGTACTCCT (GLA)	ENSP00000518234.1:p.Ile223=
ENST00000218516.4:c.592_604delinsATTGTGTACTCCT (GLA) MANE Select	ENSP00000218516.4:p.Ile198=
ENST00000466414.2:n.511_523delinsATTGTGTACTCCT (GLA)
ENST00000468823.2:n.1527_1539delinsATTGTGTACTCCT (GLA)
ENST00000479445.2:n.989_1001delinsATTGTGTACTCCT (GLA)
ENST00000480513.6:c.547+919_547+931delinsATTGTGTACTCCT (GLA)	ENSP00000497055.1:n.547+919_547+931delinsATTGTGTACTCCT
ENST00000486121.6:c.637_649delinsATTGTGTACTCCT (GLA)
ENST00000649178.1:c.715_727delinsATTGTGTACTCCT (GLA)	ENSP00000498186.1:p.Ile239=
ENST00000674127.1:c.635_647delinsATTGTGTACTCCT (GLA)	ENSP00000501044.1:n.635_647delinsATTGTGTACTCCT
ENST00000674142.1:n.679_691delinsATTGTGTACTCCT (GLA)
ENST00000674634.2:c.592_604delinsATTGTGTACTCCT (GLA)	ENSP00000502629.2:p.Ile198=
ENST00000675592.1:c.592_604delinsATTGTGTACTCCT (GLA)	ENSP00000502239.1:p.Ile198=
ENST00000675799.1:c.547+919_547+931delinsATTGTGTACTCCT (GLA)	ENSP00000502661.1:n.547+919_547+931delinsATTGTGTACTCCT
ENST00000675968.1:n.1527_1539delinsATTGTGTACTCCT (GLA)
ENST00000676156.1:c.556_568delinsATTGTGTACTCCT (GLA)	ENSP00000501730.1:p.Ile186=
ENST00000676372.1:c.592_604delinsATTGTGTACTCCT (GLA)	ENSP00000502805.1:p.Ile198=
ENST00000218516.3:c.592_604delinsATTGTGTACTCCT (GLA)	ENSP00000218516.3:p.Ile198=
ENST00000409170.3:c.300+5244_300+5256delinsAGGAGTACACAAT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5244_300+5256delinsAGGAGTACACAAT
ENST00000409338.5:c.177+8879_177+8891delinsAGGAGTACACAAT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8879_177+8891delinsAGGAGTACACAAT
ENST00000468823.1:n.141_153delinsATTGTGTACTCCT (GLA)
ENST00000480513.5:n.477+919_477+931delinsATTGTGTACTCCT (GLA)
ENST00000486121.5:n.637_649delinsATTGTGTACTCCT (GLA)
ENST00000493905.6:c.592_604delinsATTGTGTACTCCT (GLA)	ENSP00000476935.1:p.Ile198=
NM_000169.2:c.592_604delinsATTGTGTACTCCT , LRG_672t1:c.592_604delinsATTGTGTACTCCT (GLA)	NP_000160.1:p.Ile198=
NM_001199973.1:c.408+5244_408+5256delinsAGGAGTACACAAT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5244_408+5256delinsAGGAGTACACAAT
NM_001199974.1:c.285+8879_285+8891delinsAGGAGTACACAAT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8879_285+8891delinsAGGAGTACACAAT
XR_938397.1:n.620_632delinsATTGTGTACTCCT (GLA)
XR_938397.2:n.641_653delinsATTGTGTACTCCT (GLA)
NM_001199973.2:c.300+5244_300+5256delinsAGGAGTACACAAT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5244_300+5256delinsAGGAGTACACAAT
NM_001199974.2:c.177+8879_177+8891delinsAGGAGTACACAAT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8879_177+8891delinsAGGAGTACACAAT
NM_000169.3:c.592_604delinsATTGTGTACTCCT (GLA) MANE Select	NP_000160.1:p.Ile198=
NR_164783.1:n.614_626delinsATTGTGTACTCCT (GLA)