Canonical Allele Identifier: CA1139532090

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 928730
• ClinVar RCV Id: RCV001193066
• dbSNP Id: rs1928284093

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400703_101400714del , CM000685.2:g.101400703_101400714del	GRCh38
NC_000023.10:g.100655691_100655702del , CM000685.1:g.100655691_100655702del	GRCh37
NC_000023.9:g.100542347_100542358del	NCBI36
NG_007119.1:g.12251_12262del , LRG_672:g.12251_12262del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*38_*49del (GLA)	ENSP00000501124.2:n.*38_*49del
ENST00000674127.2:c.*38_*49del (GLA)	ENSP00000501044.2:n.*38_*49del
ENST00000710365.1:c.667_678del (GLA)	ENSP00000518234.1:p.Ile223_Ser226del
ENST00000218516.4:c.592_603del (GLA) MANE Select	ENSP00000218516.4:p.Ile198_Ser201del
ENST00000466414.2:n.511_522del (GLA)
ENST00000468823.2:n.1527_1538del (GLA)
ENST00000479445.2:n.989_1000del (GLA)
ENST00000480513.6:c.547+919_547+930del (GLA)	ENSP00000497055.1:n.547+919_547+930del
ENST00000486121.6:c.637_648del (GLA)
ENST00000649178.1:c.715_726del (GLA)	ENSP00000498186.1:p.Ile239_Ser242del
ENST00000674127.1:c.635_646del (GLA)	ENSP00000501044.1:n.635_646del
ENST00000674142.1:n.679_690del (GLA)
ENST00000674634.2:c.592_603del (GLA)	ENSP00000502629.2:p.Ile198_Ser201del
ENST00000675592.1:c.592_603del (GLA)	ENSP00000502239.1:p.Ile198_Ser201del
ENST00000675799.1:c.547+919_547+930del (GLA)	ENSP00000502661.1:n.547+919_547+930del
ENST00000675968.1:n.1527_1538del (GLA)
ENST00000676156.1:c.556_567del (GLA)	ENSP00000501730.1:p.Ile186_Ser189del
ENST00000676372.1:c.592_603del (GLA)	ENSP00000502805.1:p.Ile198_Ser201del
ENST00000218516.3:c.592_603del (GLA)	ENSP00000218516.3:p.Ile198_Ser201del
ENST00000409170.3:c.300+5246_300+5257del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5246_300+5257del
ENST00000409338.5:c.177+8881_177+8892del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8881_177+8892del
ENST00000468823.1:n.141_152del (GLA)
ENST00000480513.5:n.477+919_477+930del (GLA)
ENST00000486121.5:n.637_648del (GLA)
ENST00000493905.6:c.592_603del (GLA)	ENSP00000476935.1:p.Ile198_Ser201del
NM_000169.2:c.592_603del , LRG_672t1:c.592_603del (GLA)	NP_000160.1:p.Ile198_Ser201del
NM_001199973.1:c.408+5246_408+5257del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5246_408+5257del
NM_001199974.1:c.285+8881_285+8892del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8881_285+8892del
XR_938397.1:n.620_631del (GLA)
XR_938397.2:n.641_652del (GLA)
NM_001199973.2:c.300+5246_300+5257del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5246_300+5257del
NM_001199974.2:c.177+8881_177+8892del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8881_177+8892del
NM_000169.3:c.592_603del (GLA) MANE Select	NP_000160.1:p.Ile198_Ser201del
NR_164783.1:n.614_625del (GLA)