Canonical Allele Identifier: CA2448301240

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407775_101407776delinsGC , CM000685.2:g.101407775_101407776delinsGC	GRCh38
NC_000023.10:g.100662763_100662764delinsGC , CM000685.1:g.100662763_100662764delinsGC	GRCh37
NC_000023.9:g.100549419_100549420delinsGC	NCBI36
NG_007119.1:g.5188_5189delinsGC , LRG_672:g.5188_5189delinsGC
NG_016327.1:g.4573_4574delinsGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.128_129delinsGC (GLA)	ENSP00000501124.2:p.Gly43=
ENST00000674127.2:c.128_129delinsGC (GLA)	ENSP00000501044.2:p.Gly43=
ENST00000710365.1:c.128_129delinsGC (GLA)	ENSP00000518234.1:p.Gly43=
ENST00000218516.4:c.128_129delinsGC (GLA) MANE Select	ENSP00000218516.4:p.Gly43=
ENST00000466414.2:n.47_48delinsGC (GLA)
ENST00000468823.2:n.189_190delinsGC (GLA)
ENST00000479445.2:n.126_127delinsGC (GLA)
ENST00000480513.6:c.128_129delinsGC (GLA)	ENSP00000497055.1:p.Gly43=
ENST00000486121.6:c.58_59delinsGC (GLA)
ENST00000649178.1:c.128_129delinsGC (GLA)	ENSP00000498186.1:p.Gly43=
ENST00000674127.1:c.56_57delinsGC (GLA)	ENSP00000501044.1:p.Gly19=
ENST00000674142.1:n.215_216delinsGC (GLA)
ENST00000674634.2:c.128_129delinsGC (GLA)	ENSP00000502629.2:p.Gly43=
ENST00000675592.1:c.128_129delinsGC (GLA)	ENSP00000502239.1:p.Gly43=
ENST00000675799.1:c.128_129delinsGC (GLA)	ENSP00000502661.1:p.Gly43=
ENST00000675968.1:n.189_190delinsGC (GLA)
ENST00000676156.1:c.128_129delinsGC (GLA)	ENSP00000501730.1:p.Gly43=
ENST00000676372.1:c.128_129delinsGC (GLA)	ENSP00000502805.1:p.Gly43=
ENST00000218516.3:c.128_129delinsGC (GLA)	ENSP00000218516.3:p.Gly43=
ENST00000409170.3:c.301-4161_301-4160delinsGC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4161_301-4160delinsGC
ENST00000409338.5:c.178-4161_178-4160delinsGC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4161_178-4160delinsGC
ENST00000479445.1:n.112_113delinsGC (GLA)
ENST00000480513.5:n.58_59delinsGC (GLA)
ENST00000486121.5:n.58_59delinsGC (GLA)
ENST00000493905.6:c.128_129delinsGC (GLA)	ENSP00000476935.1:p.Gly43=
NM_000169.2:c.128_129delinsGC , LRG_672t1:c.128_129delinsGC (GLA)	NP_000160.1:p.Gly43=
NM_001199973.1:c.409-4161_409-4160delinsGC (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4161_409-4160delinsGC
NM_001199974.1:c.286-4161_286-4160delinsGC (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4161_286-4160delinsGC
XR_938397.1:n.156_157delinsGC (GLA)
XR_938397.2:n.177_178delinsGC (GLA)
NM_001199973.2:c.301-4161_301-4160delinsGC (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4161_301-4160delinsGC
NM_001199974.2:c.178-4161_178-4160delinsGC (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4161_178-4160delinsGC
NM_000169.3:c.128_129delinsGC (GLA) MANE Select	NP_000160.1:p.Gly43=
NR_164783.1:n.150_151delinsGC (GLA)