Canonical Allele Identifier: CA2448301300
Gene: GLA HGNC NCBI
RPL36A-HNRNPH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.101407871_101407872delinsGC , CM000685.2:g.101407871_101407872delinsGC GRCh38
NC_000023.10:g.100662859_100662860delinsGC , CM000685.1:g.100662859_100662860delinsGC GRCh37
NC_000023.9:g.100549515_100549516delinsGC NCBI36
NG_007119.1:g.5092_5093delinsGC , LRG_672:g.5092_5093delinsGC
NG_016327.1:g.4669_4670delinsGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000486121.7:c.32_33delinsGC (GLA) ENSP00000501124.2:p.Gly11=
ENST00000674127.2:c.32_33delinsGC (GLA) ENSP00000501044.2:p.Gly11=
ENST00000710365.1:c.32_33delinsGC (GLA) ENSP00000518234.1:p.Gly11=
ENST00000218516.4:c.32_33delinsGC (GLA) MANE Select ENSP00000218516.4:p.Gly11=
ENST00000468823.2:n.93_94delinsGC (GLA)
ENST00000479445.2:n.30_31delinsGC (GLA)
ENST00000480513.6:c.32_33delinsGC (GLA) ENSP00000497055.1:p.Gly11=
ENST00000649178.1:c.32_33delinsGC (GLA) ENSP00000498186.1:p.Gly11=
ENST00000674142.1:n.119_120delinsGC (GLA)
ENST00000674634.2:c.32_33delinsGC (GLA) ENSP00000502629.2:p.Gly11=
ENST00000675592.1:c.32_33delinsGC (GLA) ENSP00000502239.1:p.Gly11=
ENST00000675799.1:c.32_33delinsGC (GLA) ENSP00000502661.1:p.Gly11=
ENST00000675968.1:n.93_94delinsGC (GLA)
ENST00000676156.1:c.32_33delinsGC (GLA) ENSP00000501730.1:p.Gly11=
ENST00000676372.1:c.32_33delinsGC (GLA) ENSP00000502805.1:p.Gly11=
ENST00000218516.3:c.32_33delinsGC (GLA) ENSP00000218516.3:p.Gly11=
ENST00000409170.3:c.301-4065_301-4064delinsGC (RPL36A-HNRNPH2) ENSP00000386655.4:n.301-4065_301-4064delinsGC
ENST00000409338.5:c.178-4065_178-4064delinsGC (RPL36A-HNRNPH2) ENSP00000386974.2:n.178-4065_178-4064delinsGC
ENST00000479445.1:n.16_17delinsGC (GLA)
ENST00000493905.6:c.32_33delinsGC (GLA) ENSP00000476935.1:p.Gly11=
NM_000169.2:c.32_33delinsGC , LRG_672t1:c.32_33delinsGC (GLA) NP_000160.1:p.Gly11=
NM_001199973.1:c.409-4065_409-4064delinsGC (RPL36A-HNRNPH2) NP_001186902.1:n.409-4065_409-4064delinsGC
NM_001199974.1:c.286-4065_286-4064delinsGC (RPL36A-HNRNPH2) NP_001186903.1:n.286-4065_286-4064delinsGC
XR_938397.1:n.60_61delinsGC (GLA)
XR_938397.2:n.81_82delinsGC (GLA)
NM_001199973.2:c.301-4065_301-4064delinsGC (RPL36A-HNRNPH2) NP_001186902.2:n.301-4065_301-4064delinsGC
NM_001199974.2:c.178-4065_178-4064delinsGC (RPL36A-HNRNPH2) NP_001186903.2:n.178-4065_178-4064delinsGC
NM_000169.3:c.32_33delinsGC (GLA) MANE Select NP_000160.1:p.Gly11=
NR_164783.1:n.54_55delinsGC (GLA)