Canonical Allele Identifier: CA2694298609

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400754-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400756del , CM000685.2:g.101400756del	GRCh38
NC_000023.10:g.100655744del , CM000685.1:g.100655744del	GRCh37
NC_000023.9:g.100542400del	NCBI36
NG_007119.1:g.12209del , LRG_672:g.12209del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.665del (GLA)	ENSP00000501124.2:p.Leu222TyrfsTer?
ENST00000674127.2:c.665del (GLA)	ENSP00000501044.2:p.Leu222TyrfsTer?
ENST00000710365.1:c.625del (GLA)	ENSP00000518234.1:p.Tyr209IlefsTer8
ENST00000218516.4:c.550del (GLA) MANE Select	ENSP00000218516.4:p.Tyr184IlefsTer8
ENST00000466414.2:n.469del (GLA)
ENST00000468823.2:n.1485del (GLA)
ENST00000479445.2:n.947del (GLA)
ENST00000480513.6:c.547+877del (GLA)	ENSP00000497055.1:n.547+877del
ENST00000486121.6:c.595del (GLA)
ENST00000649178.1:c.673del (GLA)	ENSP00000498186.1:p.Tyr225IlefsTer8
ENST00000674127.1:c.593del (GLA)	ENSP00000501044.1:p.Leu198TyrfsTer?
ENST00000674142.1:n.637del (GLA)
ENST00000674634.2:c.550del (GLA)	ENSP00000502629.2:p.Tyr184IlefsTer8
ENST00000675592.1:c.550del (GLA)	ENSP00000502239.1:p.Tyr184IlefsTer8
ENST00000675799.1:c.547+877del (GLA)	ENSP00000502661.1:n.547+877del
ENST00000675968.1:n.1485del (GLA)
ENST00000676156.1:c.514del (GLA)	ENSP00000501730.1:p.Tyr172IlefsTer8
ENST00000676372.1:c.550del (GLA)	ENSP00000502805.1:p.Tyr184IlefsTer8
ENST00000218516.3:c.550del (GLA)	ENSP00000218516.3:p.Tyr184IlefsTer8
ENST00000409170.3:c.300+5299del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5299del
ENST00000409338.5:c.177+8934del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8934del
ENST00000468823.1:n.99del (GLA)
ENST00000480513.5:n.477+877del (GLA)
ENST00000486121.5:n.595del (GLA)
ENST00000493905.6:c.550del (GLA)	ENSP00000476935.1:p.Tyr184IlefsTer8
NM_000169.2:c.550del , LRG_672t1:c.550del (GLA)	NP_000160.1:p.Tyr184IlefsTer8
NM_001199973.1:c.408+5299del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5299del
NM_001199974.1:c.285+8934del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8934del
XR_938397.1:n.578del (GLA)
XR_938397.2:n.599del (GLA)
NM_001199973.2:c.300+5299del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5299del
NM_001199974.2:c.177+8934del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8934del
NM_000169.3:c.550del (GLA) MANE Select	NP_000160.1:p.Tyr184IlefsTer8
NR_164783.1:n.572del (GLA)