Canonical Allele Identifier: CA413926999

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1555985505
• MyVariant Identifiers: chrX:g.100655641_100655653del (hg19) ; chrX:g.101400654_101400666del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400655_101400667del , CM000685.2:g.101400655_101400667del	GRCh38
NC_000023.10:g.100655643_100655655del , CM000685.1:g.100655643_100655655del	GRCh37
NC_000023.9:g.100542299_100542311del	NCBI36
NG_007119.1:g.12299_12311del , LRG_672:g.12299_12311del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*85+1_*85+13del (GLA)
ENST00000674127.2:c.*85+1_*85+13del (GLA)
ENST00000710365.1:c.714+1_714+13del (GLA)
ENST00000218516.4:c.639+1_639+13del (GLA)
ENST00000466414.2:n.558+1_558+13del (GLA)
ENST00000468823.2:n.1574+1_1574+13del (GLA)
ENST00000479445.2:n.1036+1_1036+13del (GLA)
ENST00000480513.6:c.547+967_547+979del (GLA)	ENSP00000497055.1:n.547+967_547+979del
ENST00000486121.6:c.684+1_684+13del (GLA)
ENST00000649178.1:c.762+1_762+13del (GLA)
ENST00000674127.1:c.682+1_682+13del (GLA)
ENST00000674142.1:n.726+1_726+13del (GLA)
ENST00000674634.2:c.639+1_639+13del (GLA)
ENST00000675592.1:c.639+1_639+13del (GLA)
ENST00000675799.1:c.547+967_547+979del (GLA)	ENSP00000502661.1:n.547+967_547+979del
ENST00000675968.1:n.1575_1587del (GLA)
ENST00000676156.1:c.603+1_603+13del (GLA)
ENST00000676372.1:c.639+1_639+13del (GLA)
ENST00000218516.3:c.639+1_639+13del (GLA)
ENST00000409170.3:c.300+5198_300+5210del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5198_300+5210del
ENST00000409338.5:c.177+8833_177+8845del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8833_177+8845del
ENST00000468823.1:n.188+1_188+13del (GLA)
ENST00000480513.5:n.477+967_477+979del (GLA)
ENST00000486121.5:n.684+1_684+13del (GLA)
ENST00000493905.6:c.639+1_639+13del (GLA)
NM_000169.2:c.639+1_639+13del , LRG_672t1:c.639+1_639+13del (GLA)
NM_001199973.1:c.408+5198_408+5210del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5198_408+5210del
NM_001199974.1:c.285+8833_285+8845del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8833_285+8845del
XR_938397.1:n.667+1_667+13del (GLA)
XR_938397.2:n.688+1_688+13del (GLA)
NM_001199973.2:c.300+5198_300+5210del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5198_300+5210del
NM_001199974.2:c.177+8833_177+8845del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8833_177+8845del
NM_000169.3:c.639+1_639+13del (GLA)
NR_164783.1:n.661+1_661+13del (GLA)