Canonical Allele Identifier: CA2695234934

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398845_101398853dup , CM000685.2:g.101398845_101398853dup	GRCh38
NC_000023.10:g.100653833_100653841dup , CM000685.1:g.100653833_100653841dup	GRCh37
NC_000023.9:g.100540489_100540497dup	NCBI36
NG_007119.1:g.14112_14120dup , LRG_672:g.14112_14120dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*180_*188dup (GLA)	ENSP00000501124.2:n.*180_*188dup
ENST00000674127.2:c.*237_*245dup (GLA)	ENSP00000501044.2:n.*237_*245dup
ENST00000710365.1:c.809_817dup (GLA)	ENSP00000518234.1:p.Ser272_Phe273insTrpThrSer
ENST00000218516.4:c.734_742dup (GLA) MANE Select	ENSP00000218516.4:p.Ser247_Phe248insTrpThrSer
ENST00000466414.2:n.653_661dup (GLA)
ENST00000468823.2:n.1669_1677dup (GLA)
ENST00000479445.2:n.1131_1139dup (GLA)
ENST00000480513.6:c.*42_*50dup (GLA)	ENSP00000497055.1:n.*42_*50dup
ENST00000486121.6:c.779_787dup (GLA)
ENST00000649178.1:c.857_865dup (GLA)	ENSP00000498186.1:p.Ser288_Phe289insTrpThrSer
ENST00000674127.1:c.834_842dup (GLA)	ENSP00000501044.1:n.834_842dup
ENST00000674142.1:n.821_829dup (GLA)
ENST00000674634.2:c.734_742dup (GLA)	ENSP00000502629.2:p.Ser247_Phe248insTrpThrSer
ENST00000675592.1:c.734_742dup (GLA)	ENSP00000502239.1:p.Ser247_Phe248insTrpThrSer
ENST00000675799.1:c.*42_*50dup (GLA)	ENSP00000502661.1:n.*42_*50dup
ENST00000675968.1:n.3388_3396dup (GLA)
ENST00000676156.1:c.698_706dup (GLA)	ENSP00000501730.1:p.Ser235_Phe236insTrpThrSer
ENST00000676372.1:c.734_742dup (GLA)	ENSP00000502805.1:p.Ser247_Phe248insTrpThrSer
ENST00000218516.3:c.734_742dup (GLA)	ENSP00000218516.3:p.Ser247_Phe248insTrpThrSer
ENST00000409170.3:c.300+3388_300+3396dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3388_300+3396dup
ENST00000409338.5:c.177+7023_177+7031dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7023_177+7031dup
ENST00000468823.1:n.283_291dup (GLA)
ENST00000480513.5:n.572_580dup (GLA)
ENST00000493905.6:c.*122_*130dup (GLA)	ENSP00000476935.1:n.*122_*130dup
NM_000169.2:c.734_742dup , LRG_672t1:c.734_742dup (GLA)	NP_000160.1:p.Ser247_Phe248insTrpThrSer
NM_001199973.1:c.408+3388_408+3396dup (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3388_408+3396dup
NM_001199974.1:c.285+7023_285+7031dup (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7023_285+7031dup
XR_938397.1:n.819_827dup (GLA)
XR_938397.2:n.840_848dup (GLA)
NM_001199973.2:c.300+3388_300+3396dup (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3388_300+3396dup
NM_001199974.2:c.177+7023_177+7031dup (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7023_177+7031dup
NM_000169.3:c.734_742dup (GLA) MANE Select	NP_000160.1:p.Ser247_Phe248insTrpThrSer
NR_164783.1:n.813_821dup (GLA)