Canonical Allele Identifier: CA352723

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 222273
• ClinVar RCV Id: RCV000530926
• dbSNP Id: rs869312316
• MyVariant Identifiers: chrX:g.100662838_100662842del (hg19) ; chrX:g.101407850_101407854del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407856_101407860del , CM000685.2:g.101407856_101407860del	GRCh38
NC_000023.10:g.100662844_100662848del , CM000685.1:g.100662844_100662848del	GRCh37
NC_000023.9:g.100549500_100549504del	NCBI36
NG_007119.1:g.5110_5114del , LRG_672:g.5110_5114del
NG_016327.1:g.4654_4658del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.50_54del (GLA)	ENSP00000501124.2:p.Arg17ProfsTer12
ENST00000674127.2:c.50_54del (GLA)	ENSP00000501044.2:p.Arg17ProfsTer12
ENST00000710365.1:c.50_54del (GLA)	ENSP00000518234.1:p.Arg17ProfsTer12
ENST00000218516.4:c.50_54del (GLA) MANE Select	ENSP00000218516.4:p.Arg17ProfsTer12
ENST00000468823.2:n.111_115del (GLA)
ENST00000479445.2:n.48_52del (GLA)
ENST00000480513.6:c.50_54del (GLA)	ENSP00000497055.1:p.Arg17ProfsTer12
ENST00000649178.1:c.50_54del (GLA)	ENSP00000498186.1:p.Arg17ProfsTer12
ENST00000674142.1:n.137_141del (GLA)
ENST00000674634.2:c.50_54del (GLA)	ENSP00000502629.2:p.Arg17ProfsTer12
ENST00000675592.1:c.50_54del (GLA)	ENSP00000502239.1:p.Arg17ProfsTer12
ENST00000675799.1:c.50_54del (GLA)	ENSP00000502661.1:p.Arg17ProfsTer12
ENST00000675968.1:n.111_115del (GLA)
ENST00000676156.1:c.50_54del (GLA)	ENSP00000501730.1:p.Arg17ProfsTer12
ENST00000676372.1:c.50_54del (GLA)	ENSP00000502805.1:p.Arg17ProfsTer12
ENST00000218516.3:c.50_54del (GLA)	ENSP00000218516.3:p.Arg17ProfsTer12
ENST00000409170.3:c.301-4080_301-4076del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4080_301-4076del
ENST00000409338.5:c.178-4080_178-4076del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4080_178-4076del
ENST00000479445.1:n.34_38del (GLA)
ENST00000493905.6:c.50_54del (GLA)	ENSP00000476935.1:p.Arg17ProfsTer12
NM_000169.2:c.50_54del , LRG_672t1:c.50_54del (GLA)	NP_000160.1:p.Arg17ProfsTer12
NM_001199973.1:c.409-4080_409-4076del (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4080_409-4076del
NM_001199974.1:c.286-4080_286-4076del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4080_286-4076del
XR_938397.1:n.78_82del (GLA)
XR_938397.2:n.99_103del (GLA)
NM_001199973.2:c.301-4080_301-4076del (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4080_301-4076del
NM_001199974.2:c.178-4080_178-4076del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4080_178-4076del
NM_000169.3:c.50_54del (GLA) MANE Select	NP_000160.1:p.Arg17ProfsTer12
NR_164783.1:n.72_76del (GLA)