Canonical Allele Identifier: CA352984

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312450
• MyVariant Identifiers: chrX:g.100653411del (hg19) ; chrX:g.101398423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398423del , CM000685.2:g.101398423del	GRCh38
NC_000023.10:g.100653411del , CM000685.1:g.100653411del	GRCh37
NC_000023.9:g.100540067del	NCBI36
NG_007119.1:g.14541del , LRG_672:g.14541del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*392del (GLA)	ENSP00000501124.2:n.*392del
ENST00000674127.2:c.*449del (GLA)	ENSP00000501044.2:n.*449del
ENST00000710365.1:c.1021del (GLA)	ENSP00000518234.1:p.Val341Ter
ENST00000218516.4:c.946del (GLA) MANE Select	ENSP00000218516.4:p.Val316Ter
ENST00000466414.2:n.1082del (GLA)
ENST00000468823.2:n.2098del (GLA)
ENST00000479445.2:n.1560del (GLA)
ENST00000480513.6:c.*254del (GLA)	ENSP00000497055.1:n.*254del
ENST00000486121.6:c.991del (GLA)
ENST00000649178.1:c.1069del (GLA)	ENSP00000498186.1:p.Val357Ter
ENST00000674127.1:c.1046del (GLA)	ENSP00000501044.1:n.1046del
ENST00000674142.1:n.1250del (GLA)
ENST00000674634.2:c.946del (GLA)	ENSP00000502629.2:p.Val316Ter
ENST00000675592.1:c.802-324del (GLA)	ENSP00000502239.1:n.802-324del
ENST00000675799.1:c.*471del (GLA)	ENSP00000502661.1:n.*471del
ENST00000675968.1:n.3817del (GLA)
ENST00000676156.1:c.910del (GLA)	ENSP00000501730.1:p.Val304Ter
ENST00000676372.1:c.1012del (GLA)	ENSP00000502805.1:n.1012del
ENST00000218516.3:c.946del (GLA)	ENSP00000218516.3:p.Val316Ter
ENST00000409170.3:c.300+2966del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2966del
ENST00000409338.5:c.177+6601del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6601del
ENST00000466414.1:n.272del (GLA)
ENST00000493905.6:c.*334del (GLA)	ENSP00000476935.1:n.*334del
NM_000169.2:c.946del , LRG_672t1:c.946del (GLA)	NP_000160.1:p.Val316Ter
NM_001199973.1:c.408+2966del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2966del
NM_001199974.1:c.285+6601del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6601del
XR_938397.1:n.1031del (GLA)
XR_938397.2:n.1052del (GLA)
NM_001199973.2:c.300+2966del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2966del
NM_001199974.2:c.177+6601del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6601del
NM_000169.3:c.946del (GLA) MANE Select	NP_000160.1:p.Val316Ter
NR_164783.1:n.1025del (GLA)