Canonical Allele Identifier: CA2695234999
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101403890del , CM000685.2:g.101403890del GRCh38
NC_000023.10:g.100658878del , CM000685.1:g.100658878del GRCh37
NC_000023.9:g.100545534del NCBI36
NG_007119.1:g.9074del , LRG_672:g.9074del
NG_016327.1:g.688del

Transcript Alleles

HGVS Amino-acid change
ENST00000486121.7:c.290del (GLA) ENSP00000501124.2:p.Ala97ValfsTer24
ENST00000674127.2:c.290del (GLA) ENSP00000501044.2:p.Ala97ValfsTer24
ENST00000710365.1:c.365del (GLA) ENSP00000518234.1:p.Ala122ValfsTer24
ENST00000218516.4:c.290del (GLA) MANE Select ENSP00000218516.4:p.Ala97ValfsTer24
ENST00000466414.2:n.209del (GLA)
ENST00000468823.2:n.351del (GLA)
ENST00000479445.2:n.288del (GLA)
ENST00000480513.6:c.290del (GLA) ENSP00000497055.1:p.Ala97ValfsTer24
ENST00000486121.6:c.220del (GLA)
ENST00000649178.1:c.413del (GLA) ENSP00000498186.1:p.Ala138ValfsTer24
ENST00000674127.1:c.218del (GLA) ENSP00000501044.1:p.Ala73ValfsTer24
ENST00000674142.1:n.377del (GLA)
ENST00000674634.2:c.290del (GLA) ENSP00000502629.2:p.Ala97ValfsTer24
ENST00000675592.1:c.290del (GLA) ENSP00000502239.1:p.Ala97ValfsTer24
ENST00000675799.1:c.290del (GLA) ENSP00000502661.1:p.Ala97ValfsTer24
ENST00000675968.1:n.351del (GLA)
ENST00000676156.1:c.290del (GLA) ENSP00000501730.1:p.Ala97ValfsTer24
ENST00000676372.1:c.290del (GLA) ENSP00000502805.1:p.Ala97ValfsTer24
ENST00000218516.3:c.290del (GLA) ENSP00000218516.3:p.Ala97ValfsTer24
ENST00000409170.3:c.301-8046del (RPL36A-HNRNPH2) ENSP00000386655.4:n.301-8046del
ENST00000409338.5:c.178-8046del (RPL36A-HNRNPH2) ENSP00000386974.2:n.178-8046del
ENST00000479445.1:n.274del (GLA)
ENST00000480513.5:n.220del (GLA)
ENST00000486121.5:n.220del (GLA)
ENST00000493905.6:c.290del (GLA) ENSP00000476935.1:p.Ala97ValfsTer24
NM_000169.2:c.290del , LRG_672t1:c.290del (GLA) NP_000160.1:p.Ala97ValfsTer24
NM_001199973.1:c.409-8046del (RPL36A-HNRNPH2) NP_001186902.1:n.409-8046del
NM_001199974.1:c.286-8046del (RPL36A-HNRNPH2) NP_001186903.1:n.286-8046del
XR_938397.1:n.318del (GLA)
XR_938397.2:n.339del (GLA)
NM_001199973.2:c.301-8046del (RPL36A-HNRNPH2) NP_001186902.2:n.301-8046del
NM_001199974.2:c.178-8046del (RPL36A-HNRNPH2) NP_001186903.2:n.178-8046del
NM_000169.3:c.290del (GLA) MANE Select NP_000160.1:p.Ala97ValfsTer24
NR_164783.1:n.312del (GLA)