Canonical Allele Identifier: CA2695234956

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400700_101400701del , CM000685.2:g.101400700_101400701del	GRCh38
NC_000023.10:g.100655688_100655689del , CM000685.1:g.100655688_100655689del	GRCh37
NC_000023.9:g.100542344_100542345del	NCBI36
NG_007119.1:g.12265_12266del , LRG_672:g.12265_12266del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*52_*53del (GLA)	ENSP00000501124.2:n.*52_*53del
ENST00000674127.2:c.*52_*53del (GLA)	ENSP00000501044.2:n.*52_*53del
ENST00000710365.1:c.681_682del (GLA)	ENSP00000518234.1:p.Cys227Ter
ENST00000218516.4:c.606_607del (GLA) MANE Select	ENSP00000218516.4:p.Cys202Ter
ENST00000466414.2:n.525_526del (GLA)
ENST00000468823.2:n.1541_1542del (GLA)
ENST00000479445.2:n.1003_1004del (GLA)
ENST00000480513.6:c.547+933_547+934del (GLA)	ENSP00000497055.1:n.547+933_547+934del
ENST00000486121.6:c.651_652del (GLA)
ENST00000649178.1:c.729_730del (GLA)	ENSP00000498186.1:p.Cys243Ter
ENST00000674127.1:c.649_650del (GLA)	ENSP00000501044.1:n.649_650del
ENST00000674142.1:n.693_694del (GLA)
ENST00000674634.2:c.606_607del (GLA)	ENSP00000502629.2:p.Cys202Ter
ENST00000675592.1:c.606_607del (GLA)	ENSP00000502239.1:p.Cys202Ter
ENST00000675799.1:c.547+933_547+934del (GLA)	ENSP00000502661.1:n.547+933_547+934del
ENST00000675968.1:n.1541_1542del (GLA)
ENST00000676156.1:c.570_571del (GLA)	ENSP00000501730.1:p.Cys190Ter
ENST00000676372.1:c.606_607del (GLA)	ENSP00000502805.1:p.Cys202Ter
ENST00000218516.3:c.606_607del (GLA)	ENSP00000218516.3:p.Cys202Ter
ENST00000409170.3:c.300+5243_300+5244del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5243_300+5244del
ENST00000409338.5:c.177+8878_177+8879del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8878_177+8879del
ENST00000468823.1:n.155_156del (GLA)
ENST00000480513.5:n.477+933_477+934del (GLA)
ENST00000486121.5:n.651_652del (GLA)
ENST00000493905.6:c.606_607del (GLA)	ENSP00000476935.1:p.Cys202Ter
NM_000169.2:c.606_607del , LRG_672t1:c.606_607del (GLA)	NP_000160.1:p.Cys202Ter
NM_001199973.1:c.408+5243_408+5244del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5243_408+5244del
NM_001199974.1:c.285+8878_285+8879del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8878_285+8879del
XR_938397.1:n.634_635del (GLA)
XR_938397.2:n.655_656del (GLA)
NM_001199973.2:c.300+5243_300+5244del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5243_300+5244del
NM_001199974.2:c.177+8878_177+8879del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8878_177+8879del
NM_000169.3:c.606_607del (GLA) MANE Select	NP_000160.1:p.Cys202Ter
NR_164783.1:n.628_629del (GLA)