Canonical Allele Identifier: CA2695234935

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398853del , CM000685.2:g.101398853del	GRCh38
NC_000023.10:g.100653841del , CM000685.1:g.100653841del	GRCh37
NC_000023.9:g.100540497del	NCBI36
NG_007119.1:g.14111del , LRG_672:g.14111del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*179del (GLA)	ENSP00000501124.2:n.*179del
ENST00000674127.2:c.*236del (GLA)	ENSP00000501044.2:n.*236del
ENST00000710365.1:c.808del (GLA)	ENSP00000518234.1:p.Trp270GlyfsTer24
ENST00000218516.4:c.733del (GLA) MANE Select	ENSP00000218516.4:p.Trp245GlyfsTer24
ENST00000466414.2:n.652del (GLA)
ENST00000468823.2:n.1668del (GLA)
ENST00000479445.2:n.1130del (GLA)
ENST00000480513.6:c.*41del (GLA)	ENSP00000497055.1:n.*41del
ENST00000486121.6:c.778del (GLA)
ENST00000649178.1:c.856del (GLA)	ENSP00000498186.1:p.Trp286GlyfsTer24
ENST00000674127.1:c.833del (GLA)	ENSP00000501044.1:n.833del
ENST00000674142.1:n.820del (GLA)
ENST00000674634.2:c.733del (GLA)	ENSP00000502629.2:p.Trp245GlyfsTer24
ENST00000675592.1:c.733del (GLA)	ENSP00000502239.1:p.Trp245GlyfsTer?
ENST00000675799.1:c.*41del (GLA)	ENSP00000502661.1:n.*41del
ENST00000675968.1:n.3387del (GLA)
ENST00000676156.1:c.697del (GLA)	ENSP00000501730.1:p.Trp233GlyfsTer24
ENST00000676372.1:c.733del (GLA)	ENSP00000502805.1:p.Trp245GlyfsTer24
ENST00000218516.3:c.733del (GLA)	ENSP00000218516.3:p.Trp245GlyfsTer24
ENST00000409170.3:c.300+3396del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3396del
ENST00000409338.5:c.177+7031del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7031del
ENST00000468823.1:n.282del (GLA)
ENST00000480513.5:n.571del (GLA)
ENST00000493905.6:c.*121del (GLA)	ENSP00000476935.1:n.*121del
NM_000169.2:c.733del , LRG_672t1:c.733del (GLA)	NP_000160.1:p.Trp245GlyfsTer24
NM_001199973.1:c.408+3396del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3396del
NM_001199974.1:c.285+7031del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7031del
XR_938397.1:n.818del (GLA)
XR_938397.2:n.839del (GLA)
NM_001199973.2:c.300+3396del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3396del
NM_001199974.2:c.177+7031del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7031del
NM_000169.3:c.733del (GLA) MANE Select	NP_000160.1:p.Trp245GlyfsTer24
NR_164783.1:n.812del (GLA)