Canonical Allele Identifier: CA2448298807

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400677_101400687delinsGCCACATATAA , CM000685.2:g.101400677_101400687delinsGCCACATATAA	GRCh38
NC_000023.10:g.100655665_100655675delinsGCCACATATAA , CM000685.1:g.100655665_100655675delinsGCCACATATAA	GRCh37
NC_000023.9:g.100542321_100542331delinsGCCACATATAA	NCBI36
NG_007119.1:g.12277_12287delinsTTATATGTGGC , LRG_672:g.12277_12287delinsTTATATGTGGC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*64_*74delinsTTATATGTGGC (GLA)	ENSP00000501124.2:n.*64_*74delinsTTATATGTGGC
ENST00000674127.2:c.*64_*74delinsTTATATGTGGC (GLA)	ENSP00000501044.2:n.*64_*74delinsTTATATGTGGC
ENST00000710365.1:c.693_703delinsTTATATGTGGC (GLA)	ENSP00000518234.1:p.Leu231=
ENST00000218516.4:c.618_628delinsTTATATGTGGC (GLA) MANE Select	ENSP00000218516.4:p.Leu206=
ENST00000466414.2:n.537_547delinsTTATATGTGGC (GLA)
ENST00000468823.2:n.1553_1563delinsTTATATGTGGC (GLA)
ENST00000479445.2:n.1015_1025delinsTTATATGTGGC (GLA)
ENST00000480513.6:c.547+945_547+955delinsTTATATGTGGC (GLA)	ENSP00000497055.1:n.547+945_547+955delinsTTATATGTGGC
ENST00000486121.6:c.663_673delinsTTATATGTGGC (GLA)
ENST00000649178.1:c.741_751delinsTTATATGTGGC (GLA)	ENSP00000498186.1:p.Leu247=
ENST00000674127.1:c.661_671delinsTTATATGTGGC (GLA)	ENSP00000501044.1:n.661_671delinsTTATATGTGGC
ENST00000674142.1:n.705_715delinsTTATATGTGGC (GLA)
ENST00000674634.2:c.618_628delinsTTATATGTGGC (GLA)	ENSP00000502629.2:p.Leu206=
ENST00000675592.1:c.618_628delinsTTATATGTGGC (GLA)	ENSP00000502239.1:p.Leu206=
ENST00000675799.1:c.547+945_547+955delinsTTATATGTGGC (GLA)	ENSP00000502661.1:n.547+945_547+955delinsTTATATGTGGC
ENST00000675968.1:n.1553_1563delinsTTATATGTGGC (GLA)
ENST00000676156.1:c.582_592delinsTTATATGTGGC (GLA)	ENSP00000501730.1:p.Leu194=
ENST00000676372.1:c.618_628delinsTTATATGTGGC (GLA)	ENSP00000502805.1:p.Leu206=
ENST00000218516.3:c.618_628delinsTTATATGTGGC (GLA)	ENSP00000218516.3:p.Leu206=
ENST00000409170.3:c.300+5220_300+5230delinsGCCACATATAA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5220_300+5230delinsGCCACATATAA
ENST00000409338.5:c.177+8855_177+8865delinsGCCACATATAA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8855_177+8865delinsGCCACATATAA
ENST00000468823.1:n.167_177delinsTTATATGTGGC (GLA)
ENST00000480513.5:n.477+945_477+955delinsTTATATGTGGC (GLA)
ENST00000486121.5:n.663_673delinsTTATATGTGGC (GLA)
ENST00000493905.6:c.618_628delinsTTATATGTGGC (GLA)	ENSP00000476935.1:p.Leu206=
NM_000169.2:c.618_628delinsTTATATGTGGC , LRG_672t1:c.618_628delinsTTATATGTGGC (GLA)	NP_000160.1:p.Leu206=
NM_001199973.1:c.408+5220_408+5230delinsGCCACATATAA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5220_408+5230delinsGCCACATATAA
NM_001199974.1:c.285+8855_285+8865delinsGCCACATATAA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8855_285+8865delinsGCCACATATAA
XR_938397.1:n.646_656delinsTTATATGTGGC (GLA)
XR_938397.2:n.667_677delinsTTATATGTGGC (GLA)
NM_001199973.2:c.300+5220_300+5230delinsGCCACATATAA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5220_300+5230delinsGCCACATATAA
NM_001199974.2:c.177+8855_177+8865delinsGCCACATATAA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8855_177+8865delinsGCCACATATAA
NM_000169.3:c.618_628delinsTTATATGTGGC (GLA) MANE Select	NP_000160.1:p.Leu206=
NR_164783.1:n.640_650delinsTTATATGTGGC (GLA)