Canonical Allele Identifier: CA2448298808

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400678_101400687delinsCCACATATAA , CM000685.2:g.101400678_101400687delinsCCACATATAA	GRCh38
NC_000023.10:g.100655666_100655675delinsCCACATATAA , CM000685.1:g.100655666_100655675delinsCCACATATAA	GRCh37
NC_000023.9:g.100542322_100542331delinsCCACATATAA	NCBI36
NG_007119.1:g.12277_12286delinsTTATATGTGG , LRG_672:g.12277_12286delinsTTATATGTGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*64_*73delinsTTATATGTGG (GLA)	ENSP00000501124.2:n.*64_*73delinsTTATATGTGG
ENST00000674127.2:c.*64_*73delinsTTATATGTGG (GLA)	ENSP00000501044.2:n.*64_*73delinsTTATATGTGG
ENST00000710365.1:c.693_702delinsTTATATGTGG (GLA)	ENSP00000518234.1:p.Leu231=
ENST00000218516.4:c.618_627delinsTTATATGTGG (GLA) MANE Select	ENSP00000218516.4:p.Leu206=
ENST00000466414.2:n.537_546delinsTTATATGTGG (GLA)
ENST00000468823.2:n.1553_1562delinsTTATATGTGG (GLA)
ENST00000479445.2:n.1015_1024delinsTTATATGTGG (GLA)
ENST00000480513.6:c.547+945_547+954delinsTTATATGTGG (GLA)	ENSP00000497055.1:n.547+945_547+954delinsTTATATGTGG
ENST00000486121.6:c.663_672delinsTTATATGTGG (GLA)
ENST00000649178.1:c.741_750delinsTTATATGTGG (GLA)	ENSP00000498186.1:p.Leu247=
ENST00000674127.1:c.661_670delinsTTATATGTGG (GLA)	ENSP00000501044.1:n.661_670delinsTTATATGTGG
ENST00000674142.1:n.705_714delinsTTATATGTGG (GLA)
ENST00000674634.2:c.618_627delinsTTATATGTGG (GLA)	ENSP00000502629.2:p.Leu206=
ENST00000675592.1:c.618_627delinsTTATATGTGG (GLA)	ENSP00000502239.1:p.Leu206=
ENST00000675799.1:c.547+945_547+954delinsTTATATGTGG (GLA)	ENSP00000502661.1:n.547+945_547+954delinsTTATATGTGG
ENST00000675968.1:n.1553_1562delinsTTATATGTGG (GLA)
ENST00000676156.1:c.582_591delinsTTATATGTGG (GLA)	ENSP00000501730.1:p.Leu194=
ENST00000676372.1:c.618_627delinsTTATATGTGG (GLA)	ENSP00000502805.1:p.Leu206=
ENST00000218516.3:c.618_627delinsTTATATGTGG (GLA)	ENSP00000218516.3:p.Leu206=
ENST00000409170.3:c.300+5221_300+5230delinsCCACATATAA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5221_300+5230delinsCCACATATAA
ENST00000409338.5:c.177+8856_177+8865delinsCCACATATAA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8856_177+8865delinsCCACATATAA
ENST00000468823.1:n.167_176delinsTTATATGTGG (GLA)
ENST00000480513.5:n.477+945_477+954delinsTTATATGTGG (GLA)
ENST00000486121.5:n.663_672delinsTTATATGTGG (GLA)
ENST00000493905.6:c.618_627delinsTTATATGTGG (GLA)	ENSP00000476935.1:p.Leu206=
NM_000169.2:c.618_627delinsTTATATGTGG , LRG_672t1:c.618_627delinsTTATATGTGG (GLA)	NP_000160.1:p.Leu206=
NM_001199973.1:c.408+5221_408+5230delinsCCACATATAA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5221_408+5230delinsCCACATATAA
NM_001199974.1:c.285+8856_285+8865delinsCCACATATAA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8856_285+8865delinsCCACATATAA
XR_938397.1:n.646_655delinsTTATATGTGG (GLA)
XR_938397.2:n.667_676delinsTTATATGTGG (GLA)
NM_001199973.2:c.300+5221_300+5230delinsCCACATATAA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5221_300+5230delinsCCACATATAA
NM_001199974.2:c.177+8856_177+8865delinsCCACATATAA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8856_177+8865delinsCCACATATAA
NM_000169.3:c.618_627delinsTTATATGTGG (GLA) MANE Select	NP_000160.1:p.Leu206=
NR_164783.1:n.640_649delinsTTATATGTGG (GLA)