Canonical Allele Identifier: CA2499226269

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 1050825
• ClinVar RCV Id: RCV001358705 ; RCV001780267
• dbSNP Id: rs2147471863
• gnomAD v4: X-101398399-AG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398403del , CM000685.2:g.101398403del	GRCh38
NC_000023.10:g.100653391del , CM000685.1:g.100653391del	GRCh37
NC_000023.9:g.100540047del	NCBI36
NG_007119.1:g.14564del , LRG_672:g.14564del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*415del (GLA)	ENSP00000501124.2:n.*415del
ENST00000674127.2:c.*472del (GLA)	ENSP00000501044.2:n.*472del
ENST00000710365.1:c.1044del (GLA)	ENSP00000518234.1:p.Leu349TrpfsTer24
ENST00000218516.4:c.969del (GLA) MANE Select	ENSP00000218516.4:p.Leu324TrpfsTer24
ENST00000466414.2:n.1105del (GLA)
ENST00000468823.2:n.2121del (GLA)
ENST00000479445.2:n.1583del (GLA)
ENST00000480513.6:c.*277del (GLA)	ENSP00000497055.1:n.*277del
ENST00000486121.6:c.1014del (GLA)
ENST00000649178.1:c.1092del (GLA)	ENSP00000498186.1:p.Leu365TrpfsTer24
ENST00000674127.1:c.1069del (GLA)	ENSP00000501044.1:n.1069del
ENST00000674142.1:n.1273del (GLA)
ENST00000674634.2:c.969del (GLA)	ENSP00000502629.2:p.Leu324TrpfsTer11
ENST00000675592.1:c.802-301del (GLA)	ENSP00000502239.1:n.802-301del
ENST00000675799.1:c.*494del (GLA)	ENSP00000502661.1:n.*494del
ENST00000675968.1:n.3840del (GLA)
ENST00000676156.1:c.933del (GLA)	ENSP00000501730.1:p.Leu312TrpfsTer24
ENST00000676372.1:c.1035del (GLA)	ENSP00000502805.1:n.1035del
ENST00000218516.3:c.969del (GLA)	ENSP00000218516.3:p.Leu324TrpfsTer24
ENST00000409170.3:c.300+2946del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2946del
ENST00000409338.5:c.177+6581del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6581del
ENST00000466414.1:n.295del (GLA)
ENST00000493905.6:c.*357del (GLA)	ENSP00000476935.1:n.*357del
NM_000169.2:c.969del , LRG_672t1:c.969del (GLA)	NP_000160.1:p.Leu324TrpfsTer24
NM_001199973.1:c.408+2946del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2946del
NM_001199974.1:c.285+6581del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6581del
XR_938397.1:n.1054del (GLA)
XR_938397.2:n.1075del (GLA)
NM_001199973.2:c.300+2946del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2946del
NM_001199974.2:c.177+6581del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6581del
NM_000169.3:c.969del (GLA) MANE Select	NP_000160.1:p.Leu324TrpfsTer24
NR_164783.1:n.1048del (GLA)