Canonical Allele Identifier: CA2448298803

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400674_101400675delinsAG , CM000685.2:g.101400674_101400675delinsAG	GRCh38
NC_000023.10:g.100655662_100655663delinsAG , CM000685.1:g.100655662_100655663delinsAG	GRCh37
NC_000023.9:g.100542318_100542319delinsAG	NCBI36
NG_007119.1:g.12289_12290delinsCT , LRG_672:g.12289_12290delinsCT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*76_*77delinsCT (GLA)	ENSP00000501124.2:n.*76_*77delinsCT
ENST00000674127.2:c.*76_*77delinsCT (GLA)	ENSP00000501044.2:n.*76_*77delinsCT
ENST00000710365.1:c.705_706delinsCT (GLA)	ENSP00000518234.1:p.Pro235=
ENST00000218516.4:c.630_631delinsCT (GLA) MANE Select	ENSP00000218516.4:p.Pro210=
ENST00000466414.2:n.549_550delinsCT (GLA)
ENST00000468823.2:n.1565_1566delinsCT (GLA)
ENST00000479445.2:n.1027_1028delinsCT (GLA)
ENST00000480513.6:c.547+957_547+958delinsCT (GLA)	ENSP00000497055.1:n.547+957_547+958delinsCT
ENST00000486121.6:c.675_676delinsCT (GLA)
ENST00000649178.1:c.753_754delinsCT (GLA)	ENSP00000498186.1:p.Pro251=
ENST00000674127.1:c.673_674delinsCT (GLA)	ENSP00000501044.1:n.673_674delinsCT
ENST00000674142.1:n.717_718delinsCT (GLA)
ENST00000674634.2:c.630_631delinsCT (GLA)	ENSP00000502629.2:p.Pro210=
ENST00000675592.1:c.630_631delinsCT (GLA)	ENSP00000502239.1:p.Pro210=
ENST00000675799.1:c.547+957_547+958delinsCT (GLA)	ENSP00000502661.1:n.547+957_547+958delinsCT
ENST00000675968.1:n.1565_1566delinsCT (GLA)
ENST00000676156.1:c.594_595delinsCT (GLA)	ENSP00000501730.1:p.Pro198=
ENST00000676372.1:c.630_631delinsCT (GLA)	ENSP00000502805.1:p.Pro210=
ENST00000218516.3:c.630_631delinsCT (GLA)	ENSP00000218516.3:p.Pro210=
ENST00000409170.3:c.300+5217_300+5218delinsAG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5217_300+5218delinsAG
ENST00000409338.5:c.177+8852_177+8853delinsAG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8852_177+8853delinsAG
ENST00000468823.1:n.179_180delinsCT (GLA)
ENST00000480513.5:n.477+957_477+958delinsCT (GLA)
ENST00000486121.5:n.675_676delinsCT (GLA)
ENST00000493905.6:c.630_631delinsCT (GLA)	ENSP00000476935.1:p.Pro210=
NM_000169.2:c.630_631delinsCT , LRG_672t1:c.630_631delinsCT (GLA)	NP_000160.1:p.Pro210=
NM_001199973.1:c.408+5217_408+5218delinsAG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5217_408+5218delinsAG
NM_001199974.1:c.285+8852_285+8853delinsAG (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8852_285+8853delinsAG
XR_938397.1:n.658_659delinsCT (GLA)
XR_938397.2:n.679_680delinsCT (GLA)
NM_001199973.2:c.300+5217_300+5218delinsAG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5217_300+5218delinsAG
NM_001199974.2:c.177+8852_177+8853delinsAG (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8852_177+8853delinsAG
NM_000169.3:c.630_631delinsCT (GLA) MANE Select	NP_000160.1:p.Pro210=
NR_164783.1:n.652_653delinsCT (GLA)