Canonical Allele Identifier: CA2695234900

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398397dup , CM000685.2:g.101398397dup	GRCh38
NC_000023.10:g.100653385dup , CM000685.1:g.100653385dup	GRCh37
NC_000023.9:g.100540041dup	NCBI36
NG_007119.1:g.14569dup , LRG_672:g.14569dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*420dup (GLA)	ENSP00000501124.2:n.*420dup
ENST00000674127.2:c.*477dup (GLA)	ENSP00000501044.2:n.*477dup
ENST00000710365.1:c.1049dup (GLA)	ENSP00000518234.1:p.Lys351GlnfsTer7
ENST00000218516.4:c.974dup (GLA) MANE Select	ENSP00000218516.4:p.Lys326GlnfsTer7
ENST00000466414.2:n.1110dup (GLA)
ENST00000468823.2:n.2126dup (GLA)
ENST00000479445.2:n.1588dup (GLA)
ENST00000480513.6:c.*282dup (GLA)	ENSP00000497055.1:n.*282dup
ENST00000486121.6:c.1019dup (GLA)
ENST00000649178.1:c.1097dup (GLA)	ENSP00000498186.1:p.Lys367GlnfsTer7
ENST00000674127.1:c.1074dup (GLA)	ENSP00000501044.1:n.1074dup
ENST00000674142.1:n.1278dup (GLA)
ENST00000674634.2:c.974dup (GLA)	ENSP00000502629.2:p.Lys326GlnfsTer7
ENST00000675592.1:c.802-296dup (GLA)	ENSP00000502239.1:n.802-296dup
ENST00000675799.1:c.*499dup (GLA)	ENSP00000502661.1:n.*499dup
ENST00000675968.1:n.3845dup (GLA)
ENST00000676156.1:c.938dup (GLA)	ENSP00000501730.1:p.Lys314GlnfsTer7
ENST00000676372.1:c.1040dup (GLA)	ENSP00000502805.1:n.1040dup
ENST00000218516.3:c.974dup (GLA)	ENSP00000218516.3:p.Lys326GlnfsTer7
ENST00000409170.3:c.300+2940dup (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2940dup
ENST00000409338.5:c.177+6575dup (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6575dup
ENST00000466414.1:n.300dup (GLA)
ENST00000493905.6:c.*362dup (GLA)	ENSP00000476935.1:n.*362dup
NM_000169.2:c.974dup , LRG_672t1:c.974dup (GLA)	NP_000160.1:p.Lys326GlnfsTer7
NM_001199973.1:c.408+2940dup (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2940dup
NM_001199974.1:c.285+6575dup (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6575dup
XR_938397.1:n.1059dup (GLA)
XR_938397.2:n.1080dup (GLA)
NM_001199973.2:c.300+2940dup (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2940dup
NM_001199974.2:c.177+6575dup (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6575dup
NM_000169.3:c.974dup (GLA) MANE Select	NP_000160.1:p.Lys326GlnfsTer7
NR_164783.1:n.1053dup (GLA)