Canonical Allele Identifier: CA2448298245

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398956_101398958delinsCAG , CM000685.2:g.101398956_101398958delinsCAG	GRCh38
NC_000023.10:g.100653944_100653946delinsCAG , CM000685.1:g.100653944_100653946delinsCAG	GRCh37
NC_000023.9:g.100540600_100540602delinsCAG	NCBI36
NG_007119.1:g.14006_14008delinsCTG , LRG_672:g.14006_14008delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-12_*86-10delinsCTG (GLA)	ENSP00000501124.2:n.*86-12_*86-10delinsCTG
ENST00000674127.2:c.*143-12_*143-10delinsCTG (GLA)	ENSP00000501044.2:n.*143-12_*143-10delinsCTG
ENST00000710365.1:c.715-12_715-10delinsCTG (GLA)	ENSP00000518234.1:n.715-12_715-10delinsCTG
ENST00000218516.4:c.640-12_640-10delinsCTG (GLA) MANE Select	ENSP00000218516.4:n.640-12_640-10delinsCTG
ENST00000466414.2:n.559-12_559-10delinsCTG (GLA)
ENST00000468823.2:n.1575-12_1575-10delinsCTG (GLA)
ENST00000479445.2:n.1037-12_1037-10delinsCTG (GLA)
ENST00000480513.6:c.548-12_548-10delinsCTG (GLA)	ENSP00000497055.1:n.548-12_548-10delinsCTG
ENST00000486121.6:c.685-12_685-10delinsCTG (GLA)
ENST00000649178.1:c.763-12_763-10delinsCTG (GLA)	ENSP00000498186.1:n.763-12_763-10delinsCTG
ENST00000674127.1:c.740-12_740-10delinsCTG (GLA)	ENSP00000501044.1:n.740-12_740-10delinsCTG
ENST00000674142.1:n.727-12_727-10delinsCTG (GLA)
ENST00000674634.2:c.640-12_640-10delinsCTG (GLA)	ENSP00000502629.2:n.640-12_640-10delinsCTG
ENST00000675592.1:c.640-12_640-10delinsCTG (GLA)	ENSP00000502239.1:n.640-12_640-10delinsCTG
ENST00000675799.1:c.548-12_548-10delinsCTG (GLA)	ENSP00000502661.1:n.548-12_548-10delinsCTG
ENST00000675968.1:n.3282_3284delinsCTG (GLA)
ENST00000676156.1:c.604-12_604-10delinsCTG (GLA)	ENSP00000501730.1:n.604-12_604-10delinsCTG
ENST00000676372.1:c.640-12_640-10delinsCTG (GLA)	ENSP00000502805.1:n.640-12_640-10delinsCTG
ENST00000218516.3:c.640-12_640-10delinsCTG (GLA)	ENSP00000218516.3:n.640-12_640-10delinsCTG
ENST00000409170.3:c.300+3499_300+3501delinsCAG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3499_300+3501delinsCAG
ENST00000409338.5:c.177+7134_177+7136delinsCAG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7134_177+7136delinsCAG
ENST00000468823.1:n.189-12_189-10delinsCTG (GLA)
ENST00000480513.5:n.478-12_478-10delinsCTG (GLA)
ENST00000486121.5:n.685-12_685-10delinsCTG (GLA)
ENST00000493905.6:c.*28-12_*28-10delinsCTG (GLA)	ENSP00000476935.1:n.*28-12_*28-10delinsCTG
NM_000169.2:c.640-12_640-10delinsCTG , LRG_672t1:c.640-12_640-10delinsCTG (GLA)	NP_000160.1:n.640-12_640-10delinsCTG
NM_001199973.1:c.408+3499_408+3501delinsCAG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3499_408+3501delinsCAG
NM_001199974.1:c.285+7134_285+7136delinsCAG (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7134_285+7136delinsCAG
XR_938397.1:n.725-12_725-10delinsCTG (GLA)
XR_938397.2:n.746-12_746-10delinsCTG (GLA)
NM_001199973.2:c.300+3499_300+3501delinsCAG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3499_300+3501delinsCAG
NM_001199974.2:c.177+7134_177+7136delinsCAG (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7134_177+7136delinsCAG
NM_000169.3:c.640-12_640-10delinsCTG (GLA) MANE Select	NP_000160.1:n.640-12_640-10delinsCTG
NR_164783.1:n.719-12_719-10delinsCTG (GLA)