Canonical Allele Identifier: CA913190388

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 594855
• ClinVar RCV Id: RCV000730246
• dbSNP Id: rs1569303815

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400684_101400692del , CM000685.2:g.101400684_101400692del	GRCh38
NC_000023.10:g.100655672_100655680del , CM000685.1:g.100655672_100655680del	GRCh37
NC_000023.9:g.100542328_100542336del	NCBI36
NG_007119.1:g.12272_12280del , LRG_672:g.12272_12280del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*59_*67del (GLA)	ENSP00000501124.2:n.*59_*67del
ENST00000674127.2:c.*59_*67del (GLA)	ENSP00000501044.2:n.*59_*67del
ENST00000710365.1:c.688_696del (GLA)	ENSP00000518234.1:p.Pro230_Tyr232del
ENST00000218516.4:c.613_621del (GLA) MANE Select	ENSP00000218516.4:p.Pro205_Tyr207del
ENST00000466414.2:n.532_540del (GLA)
ENST00000468823.2:n.1548_1556del (GLA)
ENST00000479445.2:n.1010_1018del (GLA)
ENST00000480513.6:c.547+940_547+948del (GLA)	ENSP00000497055.1:n.547+940_547+948del
ENST00000486121.6:c.658_666del (GLA)
ENST00000649178.1:c.736_744del (GLA)	ENSP00000498186.1:p.Pro246_Tyr248del
ENST00000674127.1:c.656_664del (GLA)	ENSP00000501044.1:n.656_664del
ENST00000674142.1:n.700_708del (GLA)
ENST00000674634.2:c.613_621del (GLA)	ENSP00000502629.2:p.Pro205_Tyr207del
ENST00000675592.1:c.613_621del (GLA)	ENSP00000502239.1:p.Pro205_Tyr207del
ENST00000675799.1:c.547+940_547+948del (GLA)	ENSP00000502661.1:n.547+940_547+948del
ENST00000675968.1:n.1548_1556del (GLA)
ENST00000676156.1:c.577_585del (GLA)	ENSP00000501730.1:p.Pro193_Tyr195del
ENST00000676372.1:c.613_621del (GLA)	ENSP00000502805.1:p.Pro205_Tyr207del
ENST00000218516.3:c.613_621del (GLA)	ENSP00000218516.3:p.Pro205_Tyr207del
ENST00000409170.3:c.300+5227_300+5235del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5227_300+5235del
ENST00000409338.5:c.177+8862_177+8870del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8862_177+8870del
ENST00000468823.1:n.162_170del (GLA)
ENST00000480513.5:n.477+940_477+948del (GLA)
ENST00000486121.5:n.658_666del (GLA)
ENST00000493905.6:c.613_621del (GLA)	ENSP00000476935.1:p.Pro205_Tyr207del
NM_000169.2:c.613_621del , LRG_672t1:c.613_621del (GLA)	NP_000160.1:p.Pro205_Tyr207del
NM_001199973.1:c.408+5227_408+5235del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5227_408+5235del
NM_001199974.1:c.285+8862_285+8870del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8862_285+8870del
XR_938397.1:n.641_649del (GLA)
XR_938397.2:n.662_670del (GLA)
NM_001199973.2:c.300+5227_300+5235del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5227_300+5235del
NM_001199974.2:c.177+8862_177+8870del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8862_177+8870del
NM_000169.3:c.613_621del (GLA) MANE Select	NP_000160.1:p.Pro205_Tyr207del
NR_164783.1:n.635_643del (GLA)