Canonical Allele Identifier: CA2448297569

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397958_101397974delinsCAGGATTACAGGCCACT , CM000685.2:g.101397958_101397974delinsCAGGATTACAGGCCACT	GRCh38
NC_000023.10:g.100652946_100652962delinsCAGGATTACAGGCCACT , CM000685.1:g.100652946_100652962delinsCAGGATTACAGGCCACT	GRCh37
NC_000023.9:g.100539602_100539618delinsCAGGATTACAGGCCACT	NCBI36
NG_007119.1:g.14990_15006delinsAGTGGCCTGTAATCCTG , LRG_672:g.14990_15006delinsAGTGGCCTGTAATCCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*571_*587delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000501124.2:n.*571_*587delinsAGTGGCCTGTAATCCTG
ENST00000674127.2:c.*628_*644delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000501044.2:n.*628_*644delinsAGTGGCCTGTAATCCTG
ENST00000710365.1:c.1200_1216delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000518234.1:p.Gly400=
ENST00000218516.4:c.1125_1141delinsAGTGGCCTGTAATCCTG (GLA) MANE Select	ENSP00000218516.4:p.Gly375=
ENST00000466414.2:n.1261_1277delinsAGTGGCCTGTAATCCTG (GLA)
ENST00000468823.2:n.2547_2563delinsAGTGGCCTGTAATCCTG (GLA)
ENST00000479445.2:n.1739_1755delinsAGTGGCCTGTAATCCTG (GLA)
ENST00000480513.6:c.*433_*449delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000497055.1:n.*433_*449delinsAGTGGCCTGTAATCCTG
ENST00000486121.6:c.1170_1186delinsAGTGGCCTGTAATCCTG (GLA)
ENST00000649178.1:c.1248_1264delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000498186.1:p.Gly416=
ENST00000674127.1:c.1225_1241delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000501044.1:n.1225_1241delinsAGTGGCCTGTAATCCTG
ENST00000674142.1:n.1421+8_1421+24delinsAGTGGCCTGTAATCCTG (GLA)
ENST00000675592.1:c.927_943delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000502239.1:p.Gly309=
ENST00000675799.1:c.*650_*666delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000502661.1:n.*650_*666delinsAGTGGCCTGTAATCCTG
ENST00000675968.1:n.3996_4012delinsAGTGGCCTGTAATCCTG (GLA)
ENST00000676156.1:c.1089_1105delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000501730.1:p.Gly363=
ENST00000676372.1:c.1191_1207delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000502805.1:n.1191_1207delinsAGTGGCCTGTAATCCTG
ENST00000218516.3:c.1125_1141delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000218516.3:p.Gly375=
ENST00000409170.3:c.300+2501_300+2517delinsCAGGATTACAGGCCACT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2501_300+2517delinsCAGGATTACAGGCCACT
ENST00000409338.5:c.177+6136_177+6152delinsCAGGATTACAGGCCACT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6136_177+6152delinsCAGGATTACAGGCCACT
ENST00000466414.1:n.451_467delinsAGTGGCCTGTAATCCTG (GLA)
ENST00000493905.6:c.*513_*529delinsAGTGGCCTGTAATCCTG (GLA)	ENSP00000476935.1:n.*513_*529delinsAGTGGCCTGTAATCCTG
NM_000169.2:c.1125_1141delinsAGTGGCCTGTAATCCTG , LRG_672t1:c.1125_1141delinsAGTGGCCTGTAATCCTG (GLA)	NP_000160.1:p.Gly375=
NM_001199973.1:c.408+2501_408+2517delinsCAGGATTACAGGCCACT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2501_408+2517delinsCAGGATTACAGGCCACT
NM_001199974.1:c.285+6136_285+6152delinsCAGGATTACAGGCCACT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6136_285+6152delinsCAGGATTACAGGCCACT
XR_938397.1:n.1210_1226delinsAGTGGCCTGTAATCCTG (GLA)
XR_938397.2:n.1231_1247delinsAGTGGCCTGTAATCCTG (GLA)
NM_001199973.2:c.300+2501_300+2517delinsCAGGATTACAGGCCACT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2501_300+2517delinsCAGGATTACAGGCCACT
NM_001199974.2:c.177+6136_177+6152delinsCAGGATTACAGGCCACT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6136_177+6152delinsCAGGATTACAGGCCACT
NM_000169.3:c.1125_1141delinsAGTGGCCTGTAATCCTG (GLA) MANE Select	NP_000160.1:p.Gly375=
NR_164783.1:n.1204_1220delinsAGTGGCCTGTAATCCTG (GLA)