Canonical Allele Identifier: CA2573159126

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1352296
• ClinVar RCV Id: RCV002049433
• dbSNP Id: rs2147487313

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407785_101407788del , CM000685.2:g.101407785_101407788del	GRCh38
NC_000023.10:g.100662773_100662776del , CM000685.1:g.100662773_100662776del	GRCh37
NC_000023.9:g.100549429_100549432del	NCBI36
NG_007119.1:g.5176_5179del , LRG_672:g.5176_5179del
NG_016327.1:g.4583_4586del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.116_119del (GLA)	ENSP00000501124.2:p.Thr39IlefsTer?
ENST00000674127.2:c.116_119del (GLA)	ENSP00000501044.2:p.Thr39IlefsTer?
ENST00000710365.1:c.116_119del (GLA)	ENSP00000518234.1:p.Thr39IlefsTer?
ENST00000218516.4:c.116_119del (GLA) MANE Select	ENSP00000218516.4:p.Thr39IlefsTer?
ENST00000466414.2:n.35_38del (GLA)
ENST00000468823.2:n.177_180del (GLA)
ENST00000479445.2:n.114_117del (GLA)
ENST00000480513.6:c.116_119del (GLA)	ENSP00000497055.1:p.Thr39IlefsTer?
ENST00000486121.6:c.46_49del (GLA)
ENST00000649178.1:c.116_119del (GLA)	ENSP00000498186.1:p.Thr39IlefsTer?
ENST00000674127.1:c.44_47del (GLA)	ENSP00000501044.1:p.Thr15IlefsTer?
ENST00000674142.1:n.203_206del (GLA)
ENST00000674634.2:c.116_119del (GLA)	ENSP00000502629.2:p.Thr39IlefsTer?
ENST00000675592.1:c.116_119del (GLA)	ENSP00000502239.1:p.Thr39IlefsTer?
ENST00000675799.1:c.116_119del (GLA)	ENSP00000502661.1:p.Thr39IlefsTer?
ENST00000675968.1:n.177_180del (GLA)
ENST00000676156.1:c.116_119del (GLA)	ENSP00000501730.1:p.Thr39IlefsTer?
ENST00000676372.1:c.116_119del (GLA)	ENSP00000502805.1:p.Thr39IlefsTer?
ENST00000218516.3:c.116_119del (GLA)	ENSP00000218516.3:p.Thr39IlefsTer?
ENST00000409170.3:c.301-4151_301-4148del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4151_301-4148del
ENST00000409338.5:c.178-4151_178-4148del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4151_178-4148del
ENST00000479445.1:n.100_103del (GLA)
ENST00000480513.5:n.46_49del (GLA)
ENST00000486121.5:n.46_49del (GLA)
ENST00000493905.6:c.116_119del (GLA)	ENSP00000476935.1:p.Thr39IlefsTer?
NM_000169.2:c.116_119del , LRG_672t1:c.116_119del (GLA)	NP_000160.1:p.Thr39IlefsTer?
NM_001199973.1:c.409-4151_409-4148del (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4151_409-4148del
NM_001199974.1:c.286-4151_286-4148del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4151_286-4148del
XR_938397.1:n.144_147del (GLA)
XR_938397.2:n.165_168del (GLA)
NM_001199973.2:c.301-4151_301-4148del (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4151_301-4148del
NM_001199974.2:c.178-4151_178-4148del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4151_178-4148del
NM_000169.3:c.116_119del (GLA) MANE Select	NP_000160.1:p.Thr39IlefsTer?
NR_164783.1:n.138_141del (GLA)