Canonical Allele Identifier: CA2448298932

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401035_101401047delinsCATGTTGGCCAGG , CM000685.2:g.101401035_101401047delinsCATGTTGGCCAGG	GRCh38
NC_000023.10:g.100656023_100656035delinsCATGTTGGCCAGG , CM000685.1:g.100656023_100656035delinsCATGTTGGCCAGG	GRCh37
NC_000023.9:g.100542679_100542691delinsCATGTTGGCCAGG	NCBI36
NG_007119.1:g.11917_11929delinsCCTGGCCAACATG , LRG_672:g.11917_11929delinsCCTGGCCAACATG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.662+186_662+198delinsCCTGGCCAACATG (GLA)	ENSP00000501124.2:n.662+186_662+198delinsCCTGGCCAACATG
ENST00000674127.2:c.662+186_662+198delinsCCTGGCCAACATG (GLA)	ENSP00000501044.2:n.662+186_662+198delinsCCTGGCCAACATG
ENST00000710365.1:c.623-290_623-278delinsCCTGGCCAACATG (GLA)	ENSP00000518234.1:n.623-290_623-278delinsCCTGGCCAACATG
ENST00000218516.4:c.548-290_548-278delinsCCTGGCCAACATG (GLA) MANE Select	ENSP00000218516.4:n.548-290_548-278delinsCCTGGCCAACATG
ENST00000466414.2:n.467-290_467-278delinsCCTGGCCAACATG (GLA)
ENST00000468823.2:n.1193_1205delinsCCTGGCCAACATG (GLA)
ENST00000479445.2:n.944+186_944+198delinsCCTGGCCAACATG (GLA)
ENST00000480513.6:c.547+585_547+597delinsCCTGGCCAACATG (GLA)	ENSP00000497055.1:n.547+585_547+597delinsCCTGGCCAACATG
ENST00000486121.6:c.592+186_592+198delinsCCTGGCCAACATG (GLA)
ENST00000649178.1:c.671-290_671-278delinsCCTGGCCAACATG (GLA)	ENSP00000498186.1:n.671-290_671-278delinsCCTGGCCAACATG
ENST00000674127.1:c.590+186_590+198delinsCCTGGCCAACATG (GLA)	ENSP00000501044.1:n.590+186_590+198delinsCCTGGCCAACATG
ENST00000674142.1:n.635-290_635-278delinsCCTGGCCAACATG (GLA)
ENST00000674634.2:c.548-290_548-278delinsCCTGGCCAACATG (GLA)	ENSP00000502629.2:n.548-290_548-278delinsCCTGGCCAACATG
ENST00000675592.1:c.548-290_548-278delinsCCTGGCCAACATG (GLA)	ENSP00000502239.1:n.548-290_548-278delinsCCTGGCCAACATG
ENST00000675799.1:c.547+585_547+597delinsCCTGGCCAACATG (GLA)	ENSP00000502661.1:n.547+585_547+597delinsCCTGGCCAACATG
ENST00000675968.1:n.1193_1205delinsCCTGGCCAACATG (GLA)
ENST00000676156.1:c.512-290_512-278delinsCCTGGCCAACATG (GLA)	ENSP00000501730.1:n.512-290_512-278delinsCCTGGCCAACATG
ENST00000676372.1:c.548-290_548-278delinsCCTGGCCAACATG (GLA)	ENSP00000502805.1:n.548-290_548-278delinsCCTGGCCAACATG
ENST00000218516.3:c.548-290_548-278delinsCCTGGCCAACATG (GLA)	ENSP00000218516.3:n.548-290_548-278delinsCCTGGCCAACATG
ENST00000409170.3:c.300+5578_300+5590delinsCATGTTGGCCAGG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5578_300+5590delinsCATGTTGGCCAGG
ENST00000409338.5:c.177+9213_177+9225delinsCATGTTGGCCAGG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9213_177+9225delinsCATGTTGGCCAGG
ENST00000480513.5:n.477+585_477+597delinsCCTGGCCAACATG (GLA)
ENST00000486121.5:n.592+186_592+198delinsCCTGGCCAACATG (GLA)
ENST00000493905.6:c.548-290_548-278delinsCCTGGCCAACATG (GLA)	ENSP00000476935.1:n.548-290_548-278delinsCCTGGCCAACATG
NM_000169.2:c.548-290_548-278delinsCCTGGCCAACATG , LRG_672t1:c.548-290_548-278delinsCCTGGCCAACATG (GLA)	NP_000160.1:n.548-290_548-278delinsCCTGGCCAACATG
NM_001199973.1:c.408+5578_408+5590delinsCATGTTGGCCAGG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5578_408+5590delinsCATGTTGGCCAGG
NM_001199974.1:c.285+9213_285+9225delinsCATGTTGGCCAGG (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9213_285+9225delinsCATGTTGGCCAGG
XR_938397.1:n.576-290_576-278delinsCCTGGCCAACATG (GLA)
XR_938397.2:n.597-290_597-278delinsCCTGGCCAACATG (GLA)
NM_001199973.2:c.300+5578_300+5590delinsCATGTTGGCCAGG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5578_300+5590delinsCATGTTGGCCAGG
NM_001199974.2:c.177+9213_177+9225delinsCATGTTGGCCAGG (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9213_177+9225delinsCATGTTGGCCAGG
NM_000169.3:c.548-290_548-278delinsCCTGGCCAACATG (GLA) MANE Select	NP_000160.1:n.548-290_548-278delinsCCTGGCCAACATG
NR_164783.1:n.570-290_570-278delinsCCTGGCCAACATG (GLA)