Canonical Allele Identifier: CA2695234957

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400699del , CM000685.2:g.101400699del	GRCh38
NC_000023.10:g.100655687del , CM000685.1:g.100655687del	GRCh37
NC_000023.9:g.100542343del	NCBI36
NG_007119.1:g.12265del , LRG_672:g.12265del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*52del (GLA)	ENSP00000501124.2:n.*52del
ENST00000674127.2:c.*52del (GLA)	ENSP00000501044.2:n.*52del
ENST00000710365.1:c.681del (GLA)	ENSP00000518234.1:p.Cys227TrpfsTer?
ENST00000218516.4:c.606del (GLA) MANE Select	ENSP00000218516.4:p.Cys202TrpfsTer?
ENST00000466414.2:n.525del (GLA)
ENST00000468823.2:n.1541del (GLA)
ENST00000479445.2:n.1003del (GLA)
ENST00000480513.6:c.547+933del (GLA)	ENSP00000497055.1:n.547+933del
ENST00000486121.6:c.651del (GLA)
ENST00000649178.1:c.729del (GLA)	ENSP00000498186.1:p.Cys243TrpfsTer?
ENST00000674127.1:c.649del (GLA)	ENSP00000501044.1:n.649del
ENST00000674142.1:n.693del (GLA)
ENST00000674634.2:c.606del (GLA)	ENSP00000502629.2:p.Cys202TrpfsTer?
ENST00000675592.1:c.606del (GLA)	ENSP00000502239.1:p.Cys202TrpfsTer?
ENST00000675799.1:c.547+933del (GLA)	ENSP00000502661.1:n.547+933del
ENST00000675968.1:n.1541del (GLA)
ENST00000676156.1:c.570del (GLA)	ENSP00000501730.1:p.Cys190TrpfsTer?
ENST00000676372.1:c.606del (GLA)	ENSP00000502805.1:p.Cys202TrpfsTer?
ENST00000218516.3:c.606del (GLA)	ENSP00000218516.3:p.Cys202TrpfsTer?
ENST00000409170.3:c.300+5242del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5242del
ENST00000409338.5:c.177+8877del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8877del
ENST00000468823.1:n.155del (GLA)
ENST00000480513.5:n.477+933del (GLA)
ENST00000486121.5:n.651del (GLA)
ENST00000493905.6:c.606del (GLA)	ENSP00000476935.1:p.Cys202TrpfsTer?
NM_000169.2:c.606del , LRG_672t1:c.606del (GLA)	NP_000160.1:p.Cys202TrpfsTer?
NM_001199973.1:c.408+5242del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5242del
NM_001199974.1:c.285+8877del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8877del
XR_938397.1:n.634del (GLA)
XR_938397.2:n.655del (GLA)
NM_001199973.2:c.300+5242del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5242del
NM_001199974.2:c.177+8877del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8877del
NM_000169.3:c.606del (GLA) MANE Select	NP_000160.1:p.Cys202TrpfsTer?
NR_164783.1:n.628del (GLA)