Canonical Allele Identifier: CA352802

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312347
• MyVariant Identifiers: chrX:g.100655679del (hg19) ; chrX:g.101400691del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400692del , CM000685.2:g.101400692del	GRCh38
NC_000023.10:g.100655680del , CM000685.1:g.100655680del	GRCh37
NC_000023.9:g.100542336del	NCBI36
NG_007119.1:g.12273del , LRG_672:g.12273del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*60del (GLA)	ENSP00000501124.2:n.*60del
ENST00000674127.2:c.*60del (GLA)	ENSP00000501044.2:n.*60del
ENST00000710365.1:c.689del (GLA)	ENSP00000518234.1:p.Pro230LeufsTer?
ENST00000218516.4:c.614del (GLA) MANE Select	ENSP00000218516.4:p.Pro205LeufsTer?
ENST00000466414.2:n.533del (GLA)
ENST00000468823.2:n.1549del (GLA)
ENST00000479445.2:n.1011del (GLA)
ENST00000480513.6:c.547+941del (GLA)	ENSP00000497055.1:n.547+941del
ENST00000486121.6:c.659del (GLA)
ENST00000649178.1:c.737del (GLA)	ENSP00000498186.1:p.Pro246LeufsTer?
ENST00000674127.1:c.657del (GLA)	ENSP00000501044.1:n.657del
ENST00000674142.1:n.701del (GLA)
ENST00000674634.2:c.614del (GLA)	ENSP00000502629.2:p.Pro205LeufsTer?
ENST00000675592.1:c.614del (GLA)	ENSP00000502239.1:p.Pro205LeufsTer?
ENST00000675799.1:c.547+941del (GLA)	ENSP00000502661.1:n.547+941del
ENST00000675968.1:n.1549del (GLA)
ENST00000676156.1:c.578del (GLA)	ENSP00000501730.1:p.Pro193LeufsTer?
ENST00000676372.1:c.614del (GLA)	ENSP00000502805.1:p.Pro205LeufsTer?
ENST00000218516.3:c.614del (GLA)	ENSP00000218516.3:p.Pro205LeufsTer?
ENST00000409170.3:c.300+5235del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5235del
ENST00000409338.5:c.177+8870del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8870del
ENST00000468823.1:n.163del (GLA)
ENST00000480513.5:n.477+941del (GLA)
ENST00000486121.5:n.659del (GLA)
ENST00000493905.6:c.614del (GLA)	ENSP00000476935.1:p.Pro205LeufsTer?
NM_000169.2:c.614del , LRG_672t1:c.614del (GLA)	NP_000160.1:p.Pro205LeufsTer?
NM_001199973.1:c.408+5235del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5235del
NM_001199974.1:c.285+8870del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8870del
XR_938397.1:n.642del (GLA)
XR_938397.2:n.663del (GLA)
NM_001199973.2:c.300+5235del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5235del
NM_001199974.2:c.177+8870del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8870del
NM_000169.3:c.614del (GLA) MANE Select	NP_000160.1:p.Pro205LeufsTer?
NR_164783.1:n.636del (GLA)