Canonical Allele Identifier: CA2695234925

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398811del , CM000685.2:g.101398811del	GRCh38
NC_000023.10:g.100653799del , CM000685.1:g.100653799del	GRCh37
NC_000023.9:g.100540455del	NCBI36
NG_007119.1:g.14154del , LRG_672:g.14154del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*222del (GLA)	ENSP00000501124.2:n.*222del
ENST00000674127.2:c.*279del (GLA)	ENSP00000501044.2:n.*279del
ENST00000710365.1:c.851del (GLA)	ENSP00000518234.1:p.Pro284GlnfsTer10
ENST00000218516.4:c.776del (GLA) MANE Select	ENSP00000218516.4:p.Pro259GlnfsTer10
ENST00000466414.2:n.695del (GLA)
ENST00000468823.2:n.1711del (GLA)
ENST00000479445.2:n.1173del (GLA)
ENST00000480513.6:c.*84del (GLA)	ENSP00000497055.1:n.*84del
ENST00000486121.6:c.821del (GLA)
ENST00000649178.1:c.899del (GLA)	ENSP00000498186.1:p.Pro300GlnfsTer10
ENST00000674127.1:c.876del (GLA)	ENSP00000501044.1:n.876del
ENST00000674142.1:n.863del (GLA)
ENST00000674634.2:c.776del (GLA)	ENSP00000502629.2:p.Pro259GlnfsTer10
ENST00000675592.1:c.776del (GLA)	ENSP00000502239.1:p.Pro259GlnfsTer23
ENST00000675799.1:c.*84del (GLA)	ENSP00000502661.1:n.*84del
ENST00000675968.1:n.3430del (GLA)
ENST00000676156.1:c.740del (GLA)	ENSP00000501730.1:p.Pro247GlnfsTer10
ENST00000676372.1:c.776del (GLA)	ENSP00000502805.1:p.Pro259GlnfsTer10
ENST00000218516.3:c.776del (GLA)	ENSP00000218516.3:p.Pro259GlnfsTer10
ENST00000409170.3:c.300+3354del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3354del
ENST00000409338.5:c.177+6989del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6989del
ENST00000468823.1:n.325del (GLA)
ENST00000493905.6:c.*164del (GLA)	ENSP00000476935.1:n.*164del
NM_000169.2:c.776del , LRG_672t1:c.776del (GLA)	NP_000160.1:p.Pro259GlnfsTer10
NM_001199973.1:c.408+3354del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3354del
NM_001199974.1:c.285+6989del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6989del
XR_938397.1:n.861del (GLA)
XR_938397.2:n.882del (GLA)
NM_001199973.2:c.300+3354del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3354del
NM_001199974.2:c.177+6989del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6989del
NM_000169.3:c.776del (GLA) MANE Select	NP_000160.1:p.Pro259GlnfsTer10
NR_164783.1:n.855del (GLA)