Canonical Allele Identifier: CA2448298768

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400618_101400622delinsTTCTA , CM000685.2:g.101400618_101400622delinsTTCTA	GRCh38
NC_000023.10:g.100655606_100655610delinsTTCTA , CM000685.1:g.100655606_100655610delinsTTCTA	GRCh37
NC_000023.9:g.100542262_100542266delinsTTCTA	NCBI36
NG_007119.1:g.12342_12346delinsTAGAA , LRG_672:g.12342_12346delinsTAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*85+44_*85+48delinsTAGAA (GLA)	ENSP00000501124.2:n.*85+44_*85+48delinsTAGAA
ENST00000674127.2:c.*85+44_*85+48delinsTAGAA (GLA)	ENSP00000501044.2:n.*85+44_*85+48delinsTAGAA
ENST00000710365.1:c.714+44_714+48delinsTAGAA (GLA)	ENSP00000518234.1:n.714+44_714+48delinsTAGAA
ENST00000218516.4:c.639+44_639+48delinsTAGAA (GLA) MANE Select	ENSP00000218516.4:n.639+44_639+48delinsTAGAA
ENST00000466414.2:n.558+44_558+48delinsTAGAA (GLA)
ENST00000468823.2:n.1574+44_1574+48delinsTAGAA (GLA)
ENST00000479445.2:n.1036+44_1036+48delinsTAGAA (GLA)
ENST00000480513.6:c.547+1010_547+1014delinsTAGAA (GLA)	ENSP00000497055.1:n.547+1010_547+1014delinsTAGAA
ENST00000486121.6:c.684+44_684+48delinsTAGAA (GLA)
ENST00000649178.1:c.762+44_762+48delinsTAGAA (GLA)	ENSP00000498186.1:n.762+44_762+48delinsTAGAA
ENST00000674127.1:c.682+44_682+48delinsTAGAA (GLA)	ENSP00000501044.1:n.682+44_682+48delinsTAGAA
ENST00000674142.1:n.726+44_726+48delinsTAGAA (GLA)
ENST00000674634.2:c.639+44_639+48delinsTAGAA (GLA)	ENSP00000502629.2:n.639+44_639+48delinsTAGAA
ENST00000675592.1:c.639+44_639+48delinsTAGAA (GLA)	ENSP00000502239.1:n.639+44_639+48delinsTAGAA
ENST00000675799.1:c.547+1010_547+1014delinsTAGAA (GLA)	ENSP00000502661.1:n.547+1010_547+1014delinsTAGAA
ENST00000675968.1:n.1618_1622delinsTAGAA (GLA)
ENST00000676156.1:c.603+44_603+48delinsTAGAA (GLA)	ENSP00000501730.1:n.603+44_603+48delinsTAGAA
ENST00000676372.1:c.639+44_639+48delinsTAGAA (GLA)	ENSP00000502805.1:n.639+44_639+48delinsTAGAA
ENST00000218516.3:c.639+44_639+48delinsTAGAA (GLA)	ENSP00000218516.3:n.639+44_639+48delinsTAGAA
ENST00000409170.3:c.300+5161_300+5165delinsTTCTA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5161_300+5165delinsTTCTA
ENST00000409338.5:c.177+8796_177+8800delinsTTCTA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8796_177+8800delinsTTCTA
ENST00000468823.1:n.188+44_188+48delinsTAGAA (GLA)
ENST00000480513.5:n.477+1010_477+1014delinsTAGAA (GLA)
ENST00000486121.5:n.684+44_684+48delinsTAGAA (GLA)
ENST00000493905.6:c.639+44_639+48delinsTAGAA (GLA)	ENSP00000476935.1:n.639+44_639+48delinsTAGAA
NM_000169.2:c.639+44_639+48delinsTAGAA , LRG_672t1:c.639+44_639+48delinsTAGAA (GLA)	NP_000160.1:n.639+44_639+48delinsTAGAA
NM_001199973.1:c.408+5161_408+5165delinsTTCTA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5161_408+5165delinsTTCTA
NM_001199974.1:c.285+8796_285+8800delinsTTCTA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8796_285+8800delinsTTCTA
XR_938397.1:n.667+44_667+48delinsTAGAA (GLA)
XR_938397.2:n.688+44_688+48delinsTAGAA (GLA)
NM_001199973.2:c.300+5161_300+5165delinsTTCTA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5161_300+5165delinsTTCTA
NM_001199974.2:c.177+8796_177+8800delinsTTCTA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8796_177+8800delinsTTCTA
NM_000169.3:c.639+44_639+48delinsTAGAA (GLA) MANE Select	NP_000160.1:n.639+44_639+48delinsTAGAA
NR_164783.1:n.661+44_661+48delinsTAGAA (GLA)