Canonical Allele Identifier: CA2448299162

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401719_101401722delinsTGTC , CM000685.2:g.101401719_101401722delinsTGTC	GRCh38
NC_000023.10:g.100656707_100656710delinsTGTC , CM000685.1:g.100656707_100656710delinsTGTC	GRCh37
NC_000023.9:g.100543363_100543366delinsTGTC	NCBI36
NG_007119.1:g.11242_11245delinsGACA , LRG_672:g.11242_11245delinsGACA

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.457_460delinsGACA (GLA)	ENSP00000501124.2:p.Asp153=
ENST00000674127.2:c.457_460delinsGACA (GLA)	ENSP00000501044.2:p.Asp153=
ENST00000710365.1:c.532_535delinsGACA (GLA)	ENSP00000518234.1:p.Asp178=
ENST00000218516.4:c.457_460delinsGACA (GLA) MANE Select	ENSP00000218516.4:p.Asp153=
ENST00000466414.2:n.376_379delinsGACA (GLA)
ENST00000468823.2:n.518_521delinsGACA (GLA)
ENST00000479445.2:n.455_458delinsGACA (GLA)
ENST00000480513.6:c.457_460delinsGACA (GLA)	ENSP00000497055.1:p.Asp153=
ENST00000486121.6:c.387_390delinsGACA (GLA)
ENST00000649178.1:c.580_583delinsGACA (GLA)	ENSP00000498186.1:p.Asp194=
ENST00000674127.1:c.385_388delinsGACA (GLA)	ENSP00000501044.1:p.Asp129=
ENST00000674142.1:n.544_547delinsGACA (GLA)
ENST00000674634.2:c.457_460delinsGACA (GLA)	ENSP00000502629.2:p.Asp153=
ENST00000675592.1:c.457_460delinsGACA (GLA)	ENSP00000502239.1:p.Asp153=
ENST00000675799.1:c.457_460delinsGACA (GLA)	ENSP00000502661.1:p.Asp153=
ENST00000675968.1:n.518_521delinsGACA (GLA)
ENST00000676156.1:c.457_460delinsGACA (GLA)	ENSP00000501730.1:p.Asp153=
ENST00000676372.1:c.457_460delinsGACA (GLA)	ENSP00000502805.1:p.Asp153=
ENST00000218516.3:c.457_460delinsGACA (GLA)	ENSP00000218516.3:p.Asp153=
ENST00000409170.3:c.300+6262_300+6265delinsTGTC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6262_300+6265delinsTGTC
ENST00000409338.5:c.177+9897_177+9900delinsTGTC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9897_177+9900delinsTGTC
ENST00000479445.1:n.441_444delinsGACA (GLA)
ENST00000480513.5:n.387_390delinsGACA (GLA)
ENST00000486121.5:n.387_390delinsGACA (GLA)
ENST00000493905.6:c.457_460delinsGACA (GLA)	ENSP00000476935.1:p.Asp153=
NM_000169.2:c.457_460delinsGACA , LRG_672t1:c.457_460delinsGACA (GLA)	NP_000160.1:p.Asp153=
NM_001199973.1:c.408+6262_408+6265delinsTGTC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6262_408+6265delinsTGTC
NM_001199974.1:c.285+9897_285+9900delinsTGTC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9897_285+9900delinsTGTC
XR_938397.1:n.485_488delinsGACA (GLA)
XR_938397.2:n.506_509delinsGACA (GLA)
NM_001199973.2:c.300+6262_300+6265delinsTGTC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6262_300+6265delinsTGTC
NM_001199974.2:c.177+9897_177+9900delinsTGTC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9897_177+9900delinsTGTC
NM_000169.3:c.457_460delinsGACA (GLA) MANE Select	NP_000160.1:p.Asp153=
NR_164783.1:n.479_482delinsGACA (GLA)