Canonical Allele Identifier: CA2448299780

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403669_101403713delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG , CM000685.2:g.101403669_101403713delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG	GRCh38
NC_000023.10:g.100658657_100658701delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG , CM000685.1:g.100658657_100658701delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG	GRCh37
NC_000023.9:g.100545313_100545357delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG	NCBI36
NG_007119.1:g.9251_9295delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA , LRG_672:g.9251_9295delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA
NG_016327.1:g.467_511delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000501124.2:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000674127.2:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000501044.2:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000710365.1:c.444+98_444+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000518234.1:n.444+98_444+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000218516.4:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA) MANE Select	ENSP00000218516.4:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000466414.2:n.288+98_288+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
ENST00000468823.2:n.430+98_430+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
ENST00000479445.2:n.367+98_367+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
ENST00000480513.6:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000497055.1:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000486121.6:c.299+98_299+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
ENST00000649178.1:c.492+98_492+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000498186.1:n.492+98_492+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000674127.1:c.297+98_297+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000501044.1:n.297+98_297+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000674142.1:n.456+98_456+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
ENST00000674634.2:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000502629.2:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000675592.1:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000502239.1:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000675799.1:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000502661.1:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000675968.1:n.430+98_430+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
ENST00000676156.1:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000501730.1:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000676372.1:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000502805.1:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000218516.3:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000218516.3:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
ENST00000409170.3:c.300+8212_301-8223delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+8212_301-8223delinsTCCACCCGCCTCGGCCTC...
ENST00000409338.5:c.178-8267_178-8223delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8267_178-8223delinsTCCACCCGCCTCGGCCTC...
ENST00000479445.1:n.353+98_353+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
ENST00000480513.5:n.299+98_299+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
ENST00000486121.5:n.299+98_299+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
ENST00000493905.6:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	ENSP00000476935.1:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACA...
NM_000169.2:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA , LRG_672t1:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)	NP_000160.1:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGG...
NM_001199973.1:c.408+8212_409-8223delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+8212_409-8223delinsTCCACCCGCCTCGGCCTCCCA...
NM_001199974.1:c.286-8267_286-8223delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8267_286-8223delinsTCCACCCGCCTCGGCCTCCCA...
XR_938397.1:n.397+98_397+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
XR_938397.2:n.418+98_418+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)
NM_001199973.2:c.300+8212_301-8223delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+8212_301-8223delinsTCCACCCGCCTCGGCCTCCCA...
NM_001199974.2:c.178-8267_178-8223delinsTCCACCCGCCTCGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAG (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8267_178-8223delinsTCCACCCGCCTCGGCCTCCCA...
NM_000169.3:c.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA) MANE Select	NP_000160.1:n.369+98_369+142delinsCTCACGCCTGTAATCCCAACACTTTGG...
NR_164783.1:n.391+98_391+142delinsCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCGGGTGGA (GLA)