Canonical Allele Identifier: CA2448298176

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398840_101398842delinsTTA , CM000685.2:g.101398840_101398842delinsTTA	GRCh38
NC_000023.10:g.100653828_100653830delinsTTA , CM000685.1:g.100653828_100653830delinsTTA	GRCh37
NC_000023.9:g.100540484_100540486delinsTTA	NCBI36
NG_007119.1:g.14122_14124delinsTAA , LRG_672:g.14122_14124delinsTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*190_*192delinsTAA (GLA)	ENSP00000501124.2:n.*190_*192delinsTAA
ENST00000674127.2:c.*247_*249delinsTAA (GLA)	ENSP00000501044.2:n.*247_*249delinsTAA
ENST00000710365.1:c.819_821delinsTAA (GLA)	ENSP00000518234.1:p.Phe273=
ENST00000218516.4:c.744_746delinsTAA (GLA) MANE Select	ENSP00000218516.4:p.Phe248=
ENST00000466414.2:n.663_665delinsTAA (GLA)
ENST00000468823.2:n.1679_1681delinsTAA (GLA)
ENST00000479445.2:n.1141_1143delinsTAA (GLA)
ENST00000480513.6:c.*52_*54delinsTAA (GLA)	ENSP00000497055.1:n.*52_*54delinsTAA
ENST00000486121.6:c.789_791delinsTAA (GLA)
ENST00000649178.1:c.867_869delinsTAA (GLA)	ENSP00000498186.1:p.Phe289=
ENST00000674127.1:c.844_846delinsTAA (GLA)	ENSP00000501044.1:n.844_846delinsTAA
ENST00000674142.1:n.831_833delinsTAA (GLA)
ENST00000674634.2:c.744_746delinsTAA (GLA)	ENSP00000502629.2:p.Phe248=
ENST00000675592.1:c.744_746delinsTAA (GLA)	ENSP00000502239.1:p.Phe248=
ENST00000675799.1:c.*52_*54delinsTAA (GLA)	ENSP00000502661.1:n.*52_*54delinsTAA
ENST00000675968.1:n.3398_3400delinsTAA (GLA)
ENST00000676156.1:c.708_710delinsTAA (GLA)	ENSP00000501730.1:p.Phe236=
ENST00000676372.1:c.744_746delinsTAA (GLA)	ENSP00000502805.1:p.Phe248=
ENST00000218516.3:c.744_746delinsTAA (GLA)	ENSP00000218516.3:p.Phe248=
ENST00000409170.3:c.300+3383_300+3385delinsTTA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3383_300+3385delinsTTA
ENST00000409338.5:c.177+7018_177+7020delinsTTA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7018_177+7020delinsTTA
ENST00000468823.1:n.293_295delinsTAA (GLA)
ENST00000480513.5:n.582_584delinsTAA (GLA)
ENST00000493905.6:c.*132_*134delinsTAA (GLA)	ENSP00000476935.1:n.*132_*134delinsTAA
NM_000169.2:c.744_746delinsTAA , LRG_672t1:c.744_746delinsTAA (GLA)	NP_000160.1:p.Phe248=
NM_001199973.1:c.408+3383_408+3385delinsTTA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3383_408+3385delinsTTA
NM_001199974.1:c.285+7018_285+7020delinsTTA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7018_285+7020delinsTTA
XR_938397.1:n.829_831delinsTAA (GLA)
XR_938397.2:n.850_852delinsTAA (GLA)
NM_001199973.2:c.300+3383_300+3385delinsTTA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3383_300+3385delinsTTA
NM_001199974.2:c.177+7018_177+7020delinsTTA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7018_177+7020delinsTTA
NM_000169.3:c.744_746delinsTAA (GLA) MANE Select	NP_000160.1:p.Phe248=
NR_164783.1:n.823_825delinsTAA (GLA)