Canonical Allele Identifier: CA2695234973

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401704del , CM000685.2:g.101401704del	GRCh38
NC_000023.10:g.100656692del , CM000685.1:g.100656692del	GRCh37
NC_000023.9:g.100543348del	NCBI36
NG_007119.1:g.11262del , LRG_672:g.11262del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.477del (GLA)	ENSP00000501124.2:p.Phe159LeufsTer6
ENST00000674127.2:c.477del (GLA)	ENSP00000501044.2:p.Phe159LeufsTer6
ENST00000710365.1:c.552del (GLA)	ENSP00000518234.1:p.Phe184LeufsTer6
ENST00000218516.4:c.477del (GLA) MANE Select	ENSP00000218516.4:p.Phe159LeufsTer6
ENST00000466414.2:n.396del (GLA)
ENST00000468823.2:n.538del (GLA)
ENST00000479445.2:n.475del (GLA)
ENST00000480513.6:c.477del (GLA)	ENSP00000497055.1:p.Phe159LeufsTer6
ENST00000486121.6:c.407del (GLA)
ENST00000649178.1:c.600del (GLA)	ENSP00000498186.1:p.Phe200LeufsTer6
ENST00000674127.1:c.405del (GLA)	ENSP00000501044.1:p.Phe135LeufsTer6
ENST00000674142.1:n.564del (GLA)
ENST00000674634.2:c.477del (GLA)	ENSP00000502629.2:p.Phe159LeufsTer6
ENST00000675592.1:c.477del (GLA)	ENSP00000502239.1:p.Phe159LeufsTer6
ENST00000675799.1:c.477del (GLA)	ENSP00000502661.1:p.Phe159LeufsTer6
ENST00000675968.1:n.538del (GLA)
ENST00000676156.1:c.477del (GLA)	ENSP00000501730.1:p.Phe159LeufsTer6
ENST00000676372.1:c.477del (GLA)	ENSP00000502805.1:p.Phe159LeufsTer6
ENST00000218516.3:c.477del (GLA)	ENSP00000218516.3:p.Phe159LeufsTer6
ENST00000409170.3:c.300+6247del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6247del
ENST00000409338.5:c.177+9882del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9882del
ENST00000479445.1:n.461del (GLA)
ENST00000480513.5:n.407del (GLA)
ENST00000486121.5:n.407del (GLA)
ENST00000493905.6:c.477del (GLA)	ENSP00000476935.1:p.Phe159LeufsTer6
NM_000169.2:c.477del , LRG_672t1:c.477del (GLA)	NP_000160.1:p.Phe159LeufsTer6
NM_001199973.1:c.408+6247del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6247del
NM_001199974.1:c.285+9882del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9882del
XR_938397.1:n.505del (GLA)
XR_938397.2:n.526del (GLA)
NM_001199973.2:c.300+6247del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6247del
NM_001199974.2:c.177+9882del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9882del
NM_000169.3:c.477del (GLA) MANE Select	NP_000160.1:p.Phe159LeufsTer6
NR_164783.1:n.499del (GLA)