Canonical Allele Identifier: CA2579664288

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v4: X-101400685-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400688del , CM000685.2:g.101400688del	GRCh38
NC_000023.10:g.100655676del , CM000685.1:g.100655676del	GRCh37
NC_000023.9:g.100542332del	NCBI36
NG_007119.1:g.12278del , LRG_672:g.12278del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*65del (GLA)	ENSP00000501124.2:n.*65del
ENST00000674127.2:c.*65del (GLA)	ENSP00000501044.2:n.*65del
ENST00000710365.1:c.694del (GLA)	ENSP00000518234.1:p.Tyr232IlefsTer?
ENST00000218516.4:c.619del (GLA) MANE Select	ENSP00000218516.4:p.Tyr207IlefsTer?
ENST00000466414.2:n.538del (GLA)
ENST00000468823.2:n.1554del (GLA)
ENST00000479445.2:n.1016del (GLA)
ENST00000480513.6:c.547+946del (GLA)	ENSP00000497055.1:n.547+946del
ENST00000486121.6:c.664del (GLA)
ENST00000649178.1:c.742del (GLA)	ENSP00000498186.1:p.Tyr248IlefsTer?
ENST00000674127.1:c.662del (GLA)	ENSP00000501044.1:n.662del
ENST00000674142.1:n.706del (GLA)
ENST00000674634.2:c.619del (GLA)	ENSP00000502629.2:p.Tyr207IlefsTer?
ENST00000675592.1:c.619del (GLA)	ENSP00000502239.1:p.Tyr207IlefsTer?
ENST00000675799.1:c.547+946del (GLA)	ENSP00000502661.1:n.547+946del
ENST00000675968.1:n.1554del (GLA)
ENST00000676156.1:c.583del (GLA)	ENSP00000501730.1:p.Tyr195IlefsTer?
ENST00000676372.1:c.619del (GLA)	ENSP00000502805.1:p.Tyr207IlefsTer?
ENST00000218516.3:c.619del (GLA)	ENSP00000218516.3:p.Tyr207IlefsTer?
ENST00000409170.3:c.300+5231del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5231del
ENST00000409338.5:c.177+8866del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8866del
ENST00000468823.1:n.168del (GLA)
ENST00000480513.5:n.477+946del (GLA)
ENST00000486121.5:n.664del (GLA)
ENST00000493905.6:c.619del (GLA)	ENSP00000476935.1:p.Tyr207IlefsTer?
NM_000169.2:c.619del , LRG_672t1:c.619del (GLA)	NP_000160.1:p.Tyr207IlefsTer?
NM_001199973.1:c.408+5231del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5231del
NM_001199974.1:c.285+8866del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8866del
XR_938397.1:n.647del (GLA)
XR_938397.2:n.668del (GLA)
NM_001199973.2:c.300+5231del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5231del
NM_001199974.2:c.177+8866del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8866del
NM_000169.3:c.619del (GLA) MANE Select	NP_000160.1:p.Tyr207IlefsTer?
NR_164783.1:n.641del (GLA)