Canonical Allele Identifier: CA2697544664
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101401694del , CM000685.2:g.101401694del GRCh38
NC_000023.10:g.100656682del , CM000685.1:g.100656682del GRCh37
NC_000023.9:g.100543338del NCBI36
NG_007119.1:g.11273del , LRG_672:g.11273del

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.488del (GLA) ENSP00000501124.2:p.Gly163GlufsTer2
ENST00000674127.2:c.488del (GLA) ENSP00000501044.2:p.Gly163GlufsTer2
ENST00000710365.1:c.563del (GLA) ENSP00000518234.1:p.Gly188GlufsTer2
ENST00000218516.4:c.488del (GLA) MANE Select ENSP00000218516.4:p.Gly163GlufsTer2
ENST00000466414.2:n.407del (GLA)
ENST00000468823.2:n.549del (GLA)
ENST00000479445.2:n.486del (GLA)
ENST00000480513.6:c.488del (GLA) ENSP00000497055.1:p.Gly163GlufsTer2
ENST00000486121.6:c.418del (GLA)
ENST00000649178.1:c.611del (GLA) ENSP00000498186.1:p.Gly204GlufsTer2
ENST00000674127.1:c.416del (GLA) ENSP00000501044.1:p.Gly139GlufsTer2
ENST00000674142.1:n.575del (GLA)
ENST00000674634.2:c.488del (GLA) ENSP00000502629.2:p.Gly163GlufsTer2
ENST00000675592.1:c.488del (GLA) ENSP00000502239.1:p.Gly163GlufsTer2
ENST00000675799.1:c.488del (GLA) ENSP00000502661.1:p.Gly163GlufsTer2
ENST00000675968.1:n.549del (GLA)
ENST00000676156.1:c.488del (GLA) ENSP00000501730.1:p.Gly163GlufsTer2
ENST00000676372.1:c.488del (GLA) ENSP00000502805.1:p.Gly163GlufsTer2
ENST00000218516.3:c.488del (GLA) ENSP00000218516.3:p.Gly163GlufsTer2
ENST00000409170.3:c.300+6237del (RPL36A-HNRNPH2) ENSP00000386655.4:n.300+6237del
ENST00000409338.5:c.177+9872del (RPL36A-HNRNPH2) ENSP00000386974.2:n.177+9872del
ENST00000479445.1:n.472del (GLA)
ENST00000480513.5:n.418del (GLA)
ENST00000486121.5:n.418del (GLA)
ENST00000493905.6:c.488del (GLA) ENSP00000476935.1:p.Gly163GlufsTer2
NM_000169.2:c.488del , LRG_672t1:c.488del (GLA) NP_000160.1:p.Gly163GlufsTer2
NM_001199973.1:c.408+6237del (RPL36A-HNRNPH2) NP_001186902.1:n.408+6237del
NM_001199974.1:c.285+9872del (RPL36A-HNRNPH2) NP_001186903.1:n.285+9872del
XR_938397.1:n.516del (GLA)
XR_938397.2:n.537del (GLA)
NM_001199973.2:c.300+6237del (RPL36A-HNRNPH2) NP_001186902.2:n.300+6237del
NM_001199974.2:c.177+9872del (RPL36A-HNRNPH2) NP_001186903.2:n.177+9872del
NM_000169.3:c.488del (GLA) MANE Select NP_000160.1:p.Gly163GlufsTer2
NR_164783.1:n.510del (GLA)