Canonical Allele Identifier: CA2579664281

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400682_101400696del , CM000685.2:g.101400682_101400696del	GRCh38
NC_000023.10:g.100655670_100655684del , CM000685.1:g.100655670_100655684del	GRCh37
NC_000023.9:g.100542326_100542340del	NCBI36
NG_007119.1:g.12274_12288del , LRG_672:g.12274_12288del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*61_*75del (GLA)	ENSP00000501124.2:n.*61_*75del
ENST00000674127.2:c.*61_*75del (GLA)	ENSP00000501044.2:n.*61_*75del
ENST00000710365.1:c.690_704del (GLA)	ENSP00000518234.1:p.Leu231_Pro235del
ENST00000218516.4:c.615_629del (GLA) MANE Select	ENSP00000218516.4:p.Leu206_Pro210del
ENST00000466414.2:n.534_548del (GLA)
ENST00000468823.2:n.1550_1564del (GLA)
ENST00000479445.2:n.1012_1026del (GLA)
ENST00000480513.6:c.547+942_547+956del (GLA)	ENSP00000497055.1:n.547+942_547+956del
ENST00000486121.6:c.660_674del (GLA)
ENST00000649178.1:c.738_752del (GLA)	ENSP00000498186.1:p.Leu247_Pro251del
ENST00000674127.1:c.658_672del (GLA)	ENSP00000501044.1:n.658_672del
ENST00000674142.1:n.702_716del (GLA)
ENST00000674634.2:c.615_629del (GLA)	ENSP00000502629.2:p.Leu206_Pro210del
ENST00000675592.1:c.615_629del (GLA)	ENSP00000502239.1:p.Leu206_Pro210del
ENST00000675799.1:c.547+942_547+956del (GLA)	ENSP00000502661.1:n.547+942_547+956del
ENST00000675968.1:n.1550_1564del (GLA)
ENST00000676156.1:c.579_593del (GLA)	ENSP00000501730.1:p.Leu194_Pro198del
ENST00000676372.1:c.615_629del (GLA)	ENSP00000502805.1:p.Leu206_Pro210del
ENST00000218516.3:c.615_629del (GLA)	ENSP00000218516.3:p.Leu206_Pro210del
ENST00000409170.3:c.300+5225_300+5239del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5225_300+5239del
ENST00000409338.5:c.177+8860_177+8874del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8860_177+8874del
ENST00000468823.1:n.164_178del (GLA)
ENST00000480513.5:n.477+942_477+956del (GLA)
ENST00000486121.5:n.660_674del (GLA)
ENST00000493905.6:c.615_629del (GLA)	ENSP00000476935.1:p.Leu206_Pro210del
NM_000169.2:c.615_629del , LRG_672t1:c.615_629del (GLA)	NP_000160.1:p.Leu206_Pro210del
NM_001199973.1:c.408+5225_408+5239del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5225_408+5239del
NM_001199974.1:c.285+8860_285+8874del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8860_285+8874del
XR_938397.1:n.643_657del (GLA)
XR_938397.2:n.664_678del (GLA)
NM_001199973.2:c.300+5225_300+5239del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5225_300+5239del
NM_001199974.2:c.177+8860_177+8874del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8860_177+8874del
NM_000169.3:c.615_629del (GLA) MANE Select	NP_000160.1:p.Leu206_Pro210del
NR_164783.1:n.637_651del (GLA)