Canonical Allele Identifier: CA10606758

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 290384
• ClinVar RCV Id: RCV000404274
• dbSNP Id: rs886044902
• MyVariant Identifiers: chrX:g.100653902_100653910del (hg19) ; chrX:g.101398914_101398922del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398914_101398922del , CM000685.2:g.101398914_101398922del	GRCh38
NC_000023.10:g.100653902_100653910del , CM000685.1:g.100653902_100653910del	GRCh37
NC_000023.9:g.100540558_100540566del	NCBI36
NG_007119.1:g.14042_14050del , LRG_672:g.14042_14050del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*110_*118del (GLA)	ENSP00000501124.2:n.*110_*118del
ENST00000674127.2:c.*167_*175del (GLA)	ENSP00000501044.2:n.*167_*175del
ENST00000710365.1:c.739_747del (GLA)	ENSP00000518234.1:p.Tyr247_Asn249del
ENST00000218516.4:c.664_672del (GLA) MANE Select	ENSP00000218516.4:p.Tyr222_Asn224del
ENST00000466414.2:n.583_591del (GLA)
ENST00000468823.2:n.1599_1607del (GLA)
ENST00000479445.2:n.1061_1069del (GLA)
ENST00000480513.6:c.572_580del (GLA)	ENSP00000497055.1:p.Val191_Ser194delinsAl...
ENST00000486121.6:c.709_717del (GLA)
ENST00000649178.1:c.787_795del (GLA)	ENSP00000498186.1:p.Tyr263_Asn265del
ENST00000674127.1:c.764_772del (GLA)	ENSP00000501044.1:n.764_772del
ENST00000674142.1:n.751_759del (GLA)
ENST00000674634.2:c.664_672del (GLA)	ENSP00000502629.2:p.Tyr222_Asn224del
ENST00000675592.1:c.664_672del (GLA)	ENSP00000502239.1:p.Tyr222_Asn224del
ENST00000675799.1:c.572_580del (GLA)	ENSP00000502661.1:p.Val191_Ser194delinsAl...
ENST00000675968.1:n.3318_3326del (GLA)
ENST00000676156.1:c.628_636del (GLA)	ENSP00000501730.1:p.Tyr210_Asn212del
ENST00000676372.1:c.664_672del (GLA)	ENSP00000502805.1:p.Tyr222_Asn224del
ENST00000218516.3:c.664_672del (GLA)	ENSP00000218516.3:p.Tyr222_Asn224del
ENST00000409170.3:c.300+3457_300+3465del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3457_300+3465del
ENST00000409338.5:c.177+7092_177+7100del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7092_177+7100del
ENST00000468823.1:n.213_221del (GLA)
ENST00000480513.5:n.502_510del (GLA)
ENST00000486121.5:n.709_717del (GLA)
ENST00000493905.6:c.*52_*60del (GLA)	ENSP00000476935.1:n.*52_*60del
NM_000169.2:c.664_672del , LRG_672t1:c.664_672del (GLA)	NP_000160.1:p.Tyr222_Asn224del
NM_001199973.1:c.408+3457_408+3465del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3457_408+3465del
NM_001199974.1:c.285+7092_285+7100del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7092_285+7100del
XR_938397.1:n.749_757del (GLA)
XR_938397.2:n.770_778del (GLA)
NM_001199973.2:c.300+3457_300+3465del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3457_300+3465del
NM_001199974.2:c.177+7092_177+7100del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7092_177+7100del
NM_000169.3:c.664_672del (GLA) MANE Select	NP_000160.1:p.Tyr222_Asn224del
NR_164783.1:n.743_751del (GLA)