Canonical Allele Identifier: CA658655607

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397962_101397986del , CM000685.2:g.101397962_101397986del	GRCh38
NC_000023.10:g.100652950_100652974del , CM000685.1:g.100652950_100652974del	GRCh37
NC_000023.9:g.100539606_100539630del	NCBI36
NG_007119.1:g.14982_15006del , LRG_672:g.14982_15006del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*563_*587del (GLA)	ENSP00000501124.2:n.*563_*587del
ENST00000674127.2:c.*620_*644del (GLA)	ENSP00000501044.2:n.*620_*644del
ENST00000710365.1:c.1192_1216del (GLA)	ENSP00000518234.1:p.Gly398ProfsTer10
ENST00000218516.4:c.1117_1141del (GLA) MANE Select	ENSP00000218516.4:p.Gly373ProfsTer10
ENST00000466414.2:n.1253_1277del (GLA)
ENST00000468823.2:n.2539_2563del (GLA)
ENST00000479445.2:n.1731_1755del (GLA)
ENST00000480513.6:c.*425_*449del (GLA)	ENSP00000497055.1:n.*425_*449del
ENST00000486121.6:c.1162_1186del (GLA)
ENST00000649178.1:c.1240_1264del (GLA)	ENSP00000498186.1:p.Gly414ProfsTer10
ENST00000674127.1:c.1217_1241del (GLA)	ENSP00000501044.1:n.1217_1241del
ENST00000674142.1:n.1421_1421+24del (GLA)
ENST00000675592.1:c.919_943del (GLA)	ENSP00000502239.1:p.Gly307ProfsTer10
ENST00000675799.1:c.*642_*666del (GLA)	ENSP00000502661.1:n.*642_*666del
ENST00000675968.1:n.3988_4012del (GLA)
ENST00000676156.1:c.1081_1105del (GLA)	ENSP00000501730.1:p.Gly361ProfsTer10
ENST00000676372.1:c.1183_1207del (GLA)	ENSP00000502805.1:n.1183_1207del
ENST00000218516.3:c.1117_1141del (GLA)	ENSP00000218516.3:p.Gly373ProfsTer10
ENST00000409170.3:c.300+2505_300+2529del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2505_300+2529del
ENST00000409338.5:c.177+6140_177+6164del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6140_177+6164del
ENST00000466414.1:n.443_467del (GLA)
ENST00000493905.6:c.*505_*529del (GLA)	ENSP00000476935.1:n.*505_*529del
NM_000169.2:c.1117_1141del , LRG_672t1:c.1117_1141del (GLA)	NP_000160.1:p.Gly373ProfsTer10
NM_001199973.1:c.408+2505_408+2529del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2505_408+2529del
NM_001199974.1:c.285+6140_285+6164del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6140_285+6164del
XR_938397.1:n.1202_1226del (GLA)
XR_938397.2:n.1223_1247del (GLA)
NM_001199973.2:c.300+2505_300+2529del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2505_300+2529del
NM_001199974.2:c.177+6140_177+6164del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6140_177+6164del
NM_000169.3:c.1117_1141del (GLA) MANE Select	NP_000160.1:p.Gly373ProfsTer10
NR_164783.1:n.1196_1220del (GLA)