Canonical Allele Identifier: CA352892

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312306
• MyVariant Identifiers: chrX:g.100656708_100656710del (hg19) ; chrX:g.101401720_101401722del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401722_101401724del , CM000685.2:g.101401722_101401724del	GRCh38
NC_000023.10:g.100656710_100656712del , CM000685.1:g.100656710_100656712del	GRCh37
NC_000023.9:g.100543366_100543368del	NCBI36
NG_007119.1:g.11242_11244del , LRG_672:g.11242_11244del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.457_459del (GLA)	ENSP00000501124.2:p.Asp153del
ENST00000674127.2:c.457_459del (GLA)	ENSP00000501044.2:p.Asp153del
ENST00000710365.1:c.532_534del (GLA)	ENSP00000518234.1:p.Asp178del
ENST00000218516.4:c.457_459del (GLA) MANE Select	ENSP00000218516.4:p.Asp153del
ENST00000466414.2:n.376_378del (GLA)
ENST00000468823.2:n.518_520del (GLA)
ENST00000479445.2:n.455_457del (GLA)
ENST00000480513.6:c.457_459del (GLA)	ENSP00000497055.1:p.Asp153del
ENST00000486121.6:c.387_389del (GLA)
ENST00000649178.1:c.580_582del (GLA)	ENSP00000498186.1:p.Asp194del
ENST00000674127.1:c.385_387del (GLA)	ENSP00000501044.1:p.Asp129del
ENST00000674142.1:n.544_546del (GLA)
ENST00000674634.2:c.457_459del (GLA)	ENSP00000502629.2:p.Asp153del
ENST00000675592.1:c.457_459del (GLA)	ENSP00000502239.1:p.Asp153del
ENST00000675799.1:c.457_459del (GLA)	ENSP00000502661.1:p.Asp153del
ENST00000675968.1:n.518_520del (GLA)
ENST00000676156.1:c.457_459del (GLA)	ENSP00000501730.1:p.Asp153del
ENST00000676372.1:c.457_459del (GLA)	ENSP00000502805.1:p.Asp153del
ENST00000218516.3:c.457_459del (GLA)	ENSP00000218516.3:p.Asp153del
ENST00000409170.3:c.300+6265_300+6267del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6265_300+6267del
ENST00000409338.5:c.177+9900_177+9902del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9900_177+9902del
ENST00000479445.1:n.441_443del (GLA)
ENST00000480513.5:n.387_389del (GLA)
ENST00000486121.5:n.387_389del (GLA)
ENST00000493905.6:c.457_459del (GLA)	ENSP00000476935.1:p.Asp153del
NM_000169.2:c.457_459del , LRG_672t1:c.457_459del (GLA)	NP_000160.1:p.Asp153del
NM_001199973.1:c.408+6265_408+6267del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6265_408+6267del
NM_001199974.1:c.285+9900_285+9902del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9900_285+9902del
XR_938397.1:n.485_487del (GLA)
XR_938397.2:n.506_508del (GLA)
NM_001199973.2:c.300+6265_300+6267del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6265_300+6267del
NM_001199974.2:c.177+9900_177+9902del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9900_177+9902del
NM_000169.3:c.457_459del (GLA) MANE Select	NP_000160.1:p.Asp153del
NR_164783.1:n.479_481del (GLA)