Canonical Allele Identifier: CA1139667724

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 928735
• ClinVar RCV Id: RCV001193071
• dbSNP Id: rs1928279286

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400675_101400685delinsAGTG , CM000685.2:g.101400675_101400685delinsAGTG	GRCh38
NC_000023.10:g.100655663_100655673delinsAGTG , CM000685.1:g.100655663_100655673delinsAGTG	GRCh37
NC_000023.9:g.100542319_100542329delinsAGTG	NCBI36
NG_007119.1:g.12279_12289delinsCACT , LRG_672:g.12279_12289delinsCACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*66_*76delinsCACT (GLA)	ENSP00000501124.2:n.*66_*76delinsCACT
ENST00000674127.2:c.*66_*76delinsCACT (GLA)	ENSP00000501044.2:n.*66_*76delinsCACT
ENST00000710365.1:c.695_705delinsCACT (GLA)	ENSP00000518234.1:p.Tyr232SerfsTer31
ENST00000218516.4:c.620_630delinsCACT (GLA) MANE Select	ENSP00000218516.4:p.Tyr207SerfsTer31
ENST00000466414.2:n.539_549delinsCACT (GLA)
ENST00000468823.2:n.1555_1565delinsCACT (GLA)
ENST00000479445.2:n.1017_1027delinsCACT (GLA)
ENST00000480513.6:c.547+947_547+957delinsCACT (GLA)	ENSP00000497055.1:n.547+947_547+957delinsCACT
ENST00000486121.6:c.665_675delinsCACT (GLA)
ENST00000649178.1:c.743_753delinsCACT (GLA)	ENSP00000498186.1:p.Tyr248SerfsTer31
ENST00000674127.1:c.663_673delinsCACT (GLA)	ENSP00000501044.1:n.663_673delinsCACT
ENST00000674142.1:n.707_717delinsCACT (GLA)
ENST00000674634.2:c.620_630delinsCACT (GLA)	ENSP00000502629.2:p.Tyr207SerfsTer31
ENST00000675592.1:c.620_630delinsCACT (GLA)	ENSP00000502239.1:p.Tyr207SerfsTer31
ENST00000675799.1:c.547+947_547+957delinsCACT (GLA)	ENSP00000502661.1:n.547+947_547+957delinsCACT
ENST00000675968.1:n.1555_1565delinsCACT (GLA)
ENST00000676156.1:c.584_594delinsCACT (GLA)	ENSP00000501730.1:p.Tyr195SerfsTer31
ENST00000676372.1:c.620_630delinsCACT (GLA)	ENSP00000502805.1:p.Tyr207SerfsTer31
ENST00000218516.3:c.620_630delinsCACT (GLA)	ENSP00000218516.3:p.Tyr207SerfsTer31
ENST00000409170.3:c.300+5218_300+5228delinsAGTG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5218_300+5228delinsAGTG
ENST00000409338.5:c.177+8853_177+8863delinsAGTG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8853_177+8863delinsAGTG
ENST00000468823.1:n.169_179delinsCACT (GLA)
ENST00000480513.5:n.477+947_477+957delinsCACT (GLA)
ENST00000486121.5:n.665_675delinsCACT (GLA)
ENST00000493905.6:c.620_630delinsCACT (GLA)	ENSP00000476935.1:p.Tyr207SerfsTer?
NM_000169.2:c.620_630delinsCACT , LRG_672t1:c.620_630delinsCACT (GLA)	NP_000160.1:p.Tyr207SerfsTer31
NM_001199973.1:c.408+5218_408+5228delinsAGTG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5218_408+5228delinsAGTG
NM_001199974.1:c.285+8853_285+8863delinsAGTG (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8853_285+8863delinsAGTG
XR_938397.1:n.648_658delinsCACT (GLA)
XR_938397.2:n.669_679delinsCACT (GLA)
NM_001199973.2:c.300+5218_300+5228delinsAGTG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5218_300+5228delinsAGTG
NM_001199974.2:c.177+8853_177+8863delinsAGTG (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8853_177+8863delinsAGTG
NM_000169.3:c.620_630delinsCACT (GLA) MANE Select	NP_000160.1:p.Tyr207SerfsTer31
NR_164783.1:n.642_652delinsCACT (GLA)