Canonical Allele Identifier: CA2695234948

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398923_101398936dup , CM000685.2:g.101398923_101398936dup	GRCh38
NC_000023.10:g.100653911_100653924dup , CM000685.1:g.100653911_100653924dup	GRCh37
NC_000023.9:g.100540567_100540580dup	NCBI36
NG_007119.1:g.14028_14041dup , LRG_672:g.14028_14041dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*96_*109dup (GLA)	ENSP00000501124.2:n.*96_*109dup
ENST00000674127.2:c.*153_*166dup (GLA)	ENSP00000501044.2:n.*153_*166dup
ENST00000710365.1:c.725_738dup (GLA)	ENSP00000518234.1:p.Tyr247GlnfsTer23
ENST00000218516.4:c.650_663dup (GLA) MANE Select	ENSP00000218516.4:p.Tyr222GlnfsTer23
ENST00000466414.2:n.569_582dup (GLA)
ENST00000468823.2:n.1585_1598dup (GLA)
ENST00000479445.2:n.1047_1060dup (GLA)
ENST00000480513.6:c.558_571dup (GLA)	ENSP00000497055.1:p.Val191AlafsTer?
ENST00000486121.6:c.695_708dup (GLA)
ENST00000649178.1:c.773_786dup (GLA)	ENSP00000498186.1:p.Tyr263GlnfsTer23
ENST00000674127.1:c.750_763dup (GLA)	ENSP00000501044.1:n.750_763dup
ENST00000674142.1:n.737_750dup (GLA)
ENST00000674634.2:c.650_663dup (GLA)	ENSP00000502629.2:p.Tyr222GlnfsTer23
ENST00000675592.1:c.650_663dup (GLA)	ENSP00000502239.1:p.Tyr222GlnfsTer23
ENST00000675799.1:c.558_571dup (GLA)	ENSP00000502661.1:p.Val191AlafsTer?
ENST00000675968.1:n.3304_3317dup (GLA)
ENST00000676156.1:c.614_627dup (GLA)	ENSP00000501730.1:p.Tyr210GlnfsTer23
ENST00000676372.1:c.650_663dup (GLA)	ENSP00000502805.1:p.Tyr222GlnfsTer23
ENST00000218516.3:c.650_663dup (GLA)	ENSP00000218516.3:p.Tyr222GlnfsTer23
ENST00000409170.3:c.300+3466_300+3479dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3466_300+3479dup
ENST00000409338.5:c.177+7101_177+7114dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7101_177+7114dup
ENST00000468823.1:n.199_212dup (GLA)
ENST00000480513.5:n.488_501dup (GLA)
ENST00000486121.5:n.695_708dup (GLA)
ENST00000493905.6:c.*38_*51dup (GLA)	ENSP00000476935.1:n.*38_*51dup
NM_000169.2:c.650_663dup , LRG_672t1:c.650_663dup (GLA)	NP_000160.1:p.Tyr222GlnfsTer23
NM_001199973.1:c.408+3466_408+3479dup (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3466_408+3479dup
NM_001199974.1:c.285+7101_285+7114dup (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7101_285+7114dup
XR_938397.1:n.735_748dup (GLA)
XR_938397.2:n.756_769dup (GLA)
NM_001199973.2:c.300+3466_300+3479dup (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3466_300+3479dup
NM_001199974.2:c.177+7101_177+7114dup (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7101_177+7114dup
NM_000169.3:c.650_663dup (GLA) MANE Select	NP_000160.1:p.Tyr222GlnfsTer23
NR_164783.1:n.729_742dup (GLA)