Canonical Allele Identifier: CA2695235921

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407833_101407847del , CM000685.2:g.101407833_101407847del	GRCh38
NC_000023.10:g.100662821_100662835del , CM000685.1:g.100662821_100662835del	GRCh37
NC_000023.9:g.100549477_100549491del	NCBI36
NG_007119.1:g.5119_5133del , LRG_672:g.5119_5133del
NG_016327.1:g.4631_4645del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.59_73del (GLA)	ENSP00000501124.2:p.Ala20_Trp24del
ENST00000674127.2:c.59_73del (GLA)	ENSP00000501044.2:p.Ala20_Trp24del
ENST00000710365.1:c.59_73del (GLA)	ENSP00000518234.1:p.Ala20_Trp24del
ENST00000218516.4:c.59_73del (GLA) MANE Select	ENSP00000218516.4:p.Ala20_Trp24del
ENST00000468823.2:n.120_134del (GLA)
ENST00000479445.2:n.57_71del (GLA)
ENST00000480513.6:c.59_73del (GLA)	ENSP00000497055.1:p.Ala20_Trp24del
ENST00000649178.1:c.59_73del (GLA)	ENSP00000498186.1:p.Ala20_Trp24del
ENST00000674142.1:n.146_160del (GLA)
ENST00000674634.2:c.59_73del (GLA)	ENSP00000502629.2:p.Ala20_Trp24del
ENST00000675592.1:c.59_73del (GLA)	ENSP00000502239.1:p.Ala20_Trp24del
ENST00000675799.1:c.59_73del (GLA)	ENSP00000502661.1:p.Ala20_Trp24del
ENST00000675968.1:n.120_134del (GLA)
ENST00000676156.1:c.59_73del (GLA)	ENSP00000501730.1:p.Ala20_Trp24del
ENST00000676372.1:c.59_73del (GLA)	ENSP00000502805.1:p.Ala20_Trp24del
ENST00000218516.3:c.59_73del (GLA)	ENSP00000218516.3:p.Ala20_Trp24del
ENST00000409170.3:c.301-4103_301-4089del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4103_301-4089del
ENST00000409338.5:c.178-4103_178-4089del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4103_178-4089del
ENST00000479445.1:n.43_57del (GLA)
ENST00000493905.6:c.59_73del (GLA)	ENSP00000476935.1:p.Ala20_Trp24del
NM_000169.2:c.59_73del , LRG_672t1:c.59_73del (GLA)	NP_000160.1:p.Ala20_Trp24del
NM_001199973.1:c.409-4103_409-4089del (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4103_409-4089del
NM_001199974.1:c.286-4103_286-4089del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4103_286-4089del
XR_938397.1:n.87_101del (GLA)
XR_938397.2:n.108_122del (GLA)
NM_001199973.2:c.301-4103_301-4089del (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4103_301-4089del
NM_001199974.2:c.178-4103_178-4089del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4103_178-4089del
NM_000169.3:c.59_73del (GLA) MANE Select	NP_000160.1:p.Ala20_Trp24del
NR_164783.1:n.81_95del (GLA)