Canonical Allele Identifier: CA2448297971

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398402_101398423delinsGGTCCTGATTGATGGCAATTAC , CM000685.2:g.101398402_101398423delinsGGTCCTGATTGATGGCAATTAC	GRCh38
NC_000023.10:g.100653390_100653411delinsGGTCCTGATTGATGGCAATTAC , CM000685.1:g.100653390_100653411delinsGGTCCTGATTGATGGCAATTAC	GRCh37
NC_000023.9:g.100540046_100540067delinsGGTCCTGATTGATGGCAATTAC	NCBI36
NG_007119.1:g.14541_14562delinsGTAATTGCCATCAATCAGGACC , LRG_672:g.14541_14562delinsGTAATTGCCATCAATCAGGACC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*392_*413delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000501124.2:n.*392_*413delinsGTAATTGCCATCAATCAGGACC
ENST00000674127.2:c.*449_*470delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000501044.2:n.*449_*470delinsGTAATTGCCATCAATCAGGACC
ENST00000710365.1:c.1021_1042delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000518234.1:p.Val341=
ENST00000218516.4:c.946_967delinsGTAATTGCCATCAATCAGGACC (GLA) MANE Select	ENSP00000218516.4:p.Val316=
ENST00000466414.2:n.1082_1103delinsGTAATTGCCATCAATCAGGACC (GLA)
ENST00000468823.2:n.2098_2119delinsGTAATTGCCATCAATCAGGACC (GLA)
ENST00000479445.2:n.1560_1581delinsGTAATTGCCATCAATCAGGACC (GLA)
ENST00000480513.6:c.*254_*275delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000497055.1:n.*254_*275delinsGTAATTGCCATCAATCAGGACC
ENST00000486121.6:c.991_1012delinsGTAATTGCCATCAATCAGGACC (GLA)
ENST00000649178.1:c.1069_1090delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000498186.1:p.Val357=
ENST00000674127.1:c.1046_1067delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000501044.1:n.1046_1067delinsGTAATTGCCATCAATCAGGACC
ENST00000674142.1:n.1250_1271delinsGTAATTGCCATCAATCAGGACC (GLA)
ENST00000674634.2:c.946_967delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000502629.2:p.Val316=
ENST00000675592.1:c.802-324_802-303delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000502239.1:n.802-324_802-303delinsGTAATTGCCATCAATCAGGA...
ENST00000675799.1:c.*471_*492delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000502661.1:n.*471_*492delinsGTAATTGCCATCAATCAGGACC
ENST00000675968.1:n.3817_3838delinsGTAATTGCCATCAATCAGGACC (GLA)
ENST00000676156.1:c.910_931delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000501730.1:p.Val304=
ENST00000676372.1:c.1012_1033delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000502805.1:n.1012_1033delinsGTAATTGCCATCAATCAGGACC
ENST00000218516.3:c.946_967delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000218516.3:p.Val316=
ENST00000409170.3:c.300+2945_300+2966delinsGGTCCTGATTGATGGCAATTAC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2945_300+2966delinsGGTCCTGATTGATGGCAA...
ENST00000409338.5:c.177+6580_177+6601delinsGGTCCTGATTGATGGCAATTAC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6580_177+6601delinsGGTCCTGATTGATGGCAA...
ENST00000466414.1:n.272_293delinsGTAATTGCCATCAATCAGGACC (GLA)
ENST00000493905.6:c.*334_*355delinsGTAATTGCCATCAATCAGGACC (GLA)	ENSP00000476935.1:n.*334_*355delinsGTAATTGCCATCAATCAGGACC
NM_000169.2:c.946_967delinsGTAATTGCCATCAATCAGGACC , LRG_672t1:c.946_967delinsGTAATTGCCATCAATCAGGACC (GLA)	NP_000160.1:p.Val316=
NM_001199973.1:c.408+2945_408+2966delinsGGTCCTGATTGATGGCAATTAC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2945_408+2966delinsGGTCCTGATTGATGGCAATTA...
NM_001199974.1:c.285+6580_285+6601delinsGGTCCTGATTGATGGCAATTAC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6580_285+6601delinsGGTCCTGATTGATGGCAATTA...
XR_938397.1:n.1031_1052delinsGTAATTGCCATCAATCAGGACC (GLA)
XR_938397.2:n.1052_1073delinsGTAATTGCCATCAATCAGGACC (GLA)
NM_001199973.2:c.300+2945_300+2966delinsGGTCCTGATTGATGGCAATTAC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2945_300+2966delinsGGTCCTGATTGATGGCAATTA...
NM_001199974.2:c.177+6580_177+6601delinsGGTCCTGATTGATGGCAATTAC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6580_177+6601delinsGGTCCTGATTGATGGCAATTA...
NM_000169.3:c.946_967delinsGTAATTGCCATCAATCAGGACC (GLA) MANE Select	NP_000160.1:p.Val316=
NR_164783.1:n.1025_1046delinsGTAATTGCCATCAATCAGGACC (GLA)