Canonical Allele Identifier: CA2695235011

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101407732_101407737del , CM000685.2:g.101407732_101407737del	GRCh38
NC_000023.10:g.100662720_100662725del , CM000685.1:g.100662720_100662725del	GRCh37
NC_000023.9:g.100549376_100549381del	NCBI36
NG_007119.1:g.5227_5232del , LRG_672:g.5227_5232del
NG_016327.1:g.4530_4535del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.167_172del (GLA)	ENSP00000501124.2:p.Cys56Ter
ENST00000674127.2:c.167_172del (GLA)	ENSP00000501044.2:p.Cys56Ter
ENST00000710365.1:c.167_172del (GLA)	ENSP00000518234.1:p.Cys56Ter
ENST00000218516.4:c.167_172del (GLA) MANE Select	ENSP00000218516.4:p.Cys56Ter
ENST00000466414.2:n.86_91del (GLA)
ENST00000468823.2:n.228_233del (GLA)
ENST00000479445.2:n.165_170del (GLA)
ENST00000480513.6:c.167_172del (GLA)	ENSP00000497055.1:p.Cys56Ter
ENST00000486121.6:c.97_102del (GLA)
ENST00000649178.1:c.167_172del (GLA)	ENSP00000498186.1:p.Cys56Ter
ENST00000674127.1:c.95_100del (GLA)	ENSP00000501044.1:p.Cys32Ter
ENST00000674142.1:n.254_259del (GLA)
ENST00000674634.2:c.167_172del (GLA)	ENSP00000502629.2:p.Cys56Ter
ENST00000675592.1:c.167_172del (GLA)	ENSP00000502239.1:p.Cys56Ter
ENST00000675799.1:c.167_172del (GLA)	ENSP00000502661.1:p.Cys56Ter
ENST00000675968.1:n.228_233del (GLA)
ENST00000676156.1:c.167_172del (GLA)	ENSP00000501730.1:p.Cys56Ter
ENST00000676372.1:c.167_172del (GLA)	ENSP00000502805.1:p.Cys56Ter
ENST00000218516.3:c.167_172del (GLA)	ENSP00000218516.3:p.Cys56Ter
ENST00000409170.3:c.301-4204_301-4199del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.301-4204_301-4199del
ENST00000409338.5:c.178-4204_178-4199del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-4204_178-4199del
ENST00000479445.1:n.151_156del (GLA)
ENST00000480513.5:n.97_102del (GLA)
ENST00000486121.5:n.97_102del (GLA)
ENST00000493905.6:c.167_172del (GLA)	ENSP00000476935.1:p.Cys56Ter
NM_000169.2:c.167_172del , LRG_672t1:c.167_172del (GLA)	NP_000160.1:p.Cys56Ter
NM_001199973.1:c.409-4204_409-4199del (RPL36A-HNRNPH2)	NP_001186902.1:n.409-4204_409-4199del
NM_001199974.1:c.286-4204_286-4199del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-4204_286-4199del
XR_938397.1:n.195_200del (GLA)
XR_938397.2:n.216_221del (GLA)
NM_001199973.2:c.301-4204_301-4199del (RPL36A-HNRNPH2)	NP_001186902.2:n.301-4204_301-4199del
NM_001199974.2:c.178-4204_178-4199del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-4204_178-4199del
NM_000169.3:c.167_172del (GLA) MANE Select	NP_000160.1:p.Cys56Ter
NR_164783.1:n.189_194del (GLA)