Canonical Allele Identifier: CA16043256

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398374_101398375delinsTC , CM000685.2:g.101398374_101398375delinsTC	GRCh38
NC_000023.10:g.100653362_100653363delinsTC , CM000685.1:g.100653362_100653363delinsTC	GRCh37
NC_000023.9:g.100540018_100540019delinsTC	NCBI36
NG_007119.1:g.14589_14590delinsGA , LRG_672:g.14589_14590delinsGA

Transcript Alleles

HGVS	Amino-acid Change
NM_000169.3:c.994_995delinsGA (GLA) MANE Select	NP_000160.1:p.Arg332Glu
ENST00000218516.4:c.994_995delinsGA (GLA) MANE Select	ENSP00000218516.4:p.Arg332Glu
NM_000169.2:c.994_995delinsGA , LRG_672t1:c.994_995delinsGA (GLA)	NP_000160.1:p.Arg332Glu
NM_001199973.1:c.408+2917_408+2918delinsTC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2917_408+2918delinsTC
NM_001199973.2:c.300+2917_300+2918delinsTC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2917_300+2918delinsTC
NM_001199974.1:c.285+6552_285+6553delinsTC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6552_285+6553delinsTC
NM_001199974.2:c.177+6552_177+6553delinsTC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6552_177+6553delinsTC
NR_164783.1:n.1073_1074delinsGA (GLA)
ENST00000218516.3:c.994_995delinsGA (GLA)	ENSP00000218516.3:p.Arg332Glu
ENST00000409170.3:c.300+2917_300+2918delinsTC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2917_300+2918delinsTC
ENST00000409338.5:c.177+6552_177+6553delinsTC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6552_177+6553delinsTC
ENST00000466414.1:n.320_321delinsGA (GLA)
ENST00000466414.2:n.1130_1131delinsGA (GLA)
ENST00000468823.2:n.2146_2147delinsGA (GLA)
ENST00000479445.2:n.1608_1609delinsGA (GLA)
ENST00000480513.6:c.*302_*303delinsGA (GLA)	ENSP00000497055.1:n.*302_*303delinsGA
ENST00000486121.6:c.1039_1040delinsGA (GLA)
ENST00000486121.7:c.*440_*441delinsGA (GLA)	ENSP00000501124.2:n.*440_*441delinsGA
ENST00000493905.6:c.*382_*383delinsGA (GLA)	ENSP00000476935.1:n.*382_*383delinsGA
ENST00000649178.1:c.1117_1118delinsGA (GLA)	ENSP00000498186.1:p.Arg373Glu
ENST00000674127.1:c.1094_1095delinsGA (GLA)	ENSP00000501044.1:n.1094_1095delinsGA
ENST00000674127.2:c.*497_*498delinsGA (GLA)	ENSP00000501044.2:n.*497_*498delinsGA
ENST00000674142.1:n.1298_1299delinsGA (GLA)
ENST00000674634.2:c.994_995delinsGA (GLA)	ENSP00000502629.2:p.Arg332Glu
ENST00000675592.1:c.802-276_802-275delinsGA (GLA)	ENSP00000502239.1:n.802-276_802-275delinsGA
ENST00000675799.1:c.*519_*520delinsGA (GLA)	ENSP00000502661.1:n.*519_*520delinsGA
ENST00000675968.1:n.3865_3866delinsGA (GLA)
ENST00000676156.1:c.958_959delinsGA (GLA)	ENSP00000501730.1:p.Arg320Glu
ENST00000676372.1:c.1060_1061delinsGA (GLA)	ENSP00000502805.1:n.1060_1061delinsGA
ENST00000710365.1:c.1069_1070delinsGA (GLA)	ENSP00000518234.1:p.Arg357Glu
XR_938397.1:n.1079_1080delinsGA (GLA)
XR_938397.2:n.1100_1101delinsGA (GLA)