Canonical Allele Identifier: CA2448297909

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398235_101398240delinsATAAAG , CM000685.2:g.101398235_101398240delinsATAAAG	GRCh38
NC_000023.10:g.100653223_100653228delinsATAAAG , CM000685.1:g.100653223_100653228delinsATAAAG	GRCh37
NC_000023.9:g.100539879_100539884delinsATAAAG	NCBI36
NG_007119.1:g.14724_14729delinsCTTTAT , LRG_672:g.14724_14729delinsCTTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*445+130_*446-136delinsCTTTAT (GLA)	ENSP00000501124.2:n.*445+130_*446-136delinsCTTTAT
ENST00000674127.2:c.*502+130_*503-136delinsCTTTAT (GLA)	ENSP00000501044.2:n.*502+130_*503-136delinsCTTTAT
ENST00000710365.1:c.1074+130_1075-136delinsCTTTAT (GLA)	ENSP00000518234.1:n.1074+130_1075-136delinsCTTTAT
ENST00000218516.4:c.999+130_1000-136delinsCTTTAT (GLA) MANE Select	ENSP00000218516.4:n.999+130_1000-136delinsCTTTAT
ENST00000466414.2:n.1135+130_1136-136delinsCTTTAT (GLA)
ENST00000468823.2:n.2281_2286delinsCTTTAT (GLA)
ENST00000479445.2:n.1613+130_1614-136delinsCTTTAT (GLA)
ENST00000480513.6:c.*307+130_*308-136delinsCTTTAT (GLA)	ENSP00000497055.1:n.*307+130_*308-136delinsCTTTAT
ENST00000486121.6:c.1044+130_1045-136delinsCTTTAT (GLA)
ENST00000649178.1:c.1122+130_1123-136delinsCTTTAT (GLA)	ENSP00000498186.1:n.1122+130_1123-136delinsCTTTAT
ENST00000674127.1:c.1099+130_1100-136delinsCTTTAT (GLA)	ENSP00000501044.1:n.1099+130_1100-136delinsCTTTAT
ENST00000674142.1:n.1303+130_1304-136delinsCTTTAT (GLA)
ENST00000675592.1:c.802-141_802-136delinsCTTTAT (GLA)	ENSP00000502239.1:n.802-141_802-136delinsCTTTAT
ENST00000675799.1:c.*524+130_*525-136delinsCTTTAT (GLA)	ENSP00000502661.1:n.*524+130_*525-136delinsCTTTAT
ENST00000675968.1:n.3870+130_3871-136delinsCTTTAT (GLA)
ENST00000676156.1:c.963+130_964-136delinsCTTTAT (GLA)	ENSP00000501730.1:n.963+130_964-136delinsCTTTAT
ENST00000676372.1:c.1065+130_1066-136delinsCTTTAT (GLA)	ENSP00000502805.1:n.1065+130_1066-136delinsCTTTAT
ENST00000218516.3:c.999+130_1000-136delinsCTTTAT (GLA)	ENSP00000218516.3:n.999+130_1000-136delinsCTTTAT
ENST00000409170.3:c.300+2778_300+2783delinsATAAAG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2778_300+2783delinsATAAAG
ENST00000409338.5:c.177+6413_177+6418delinsATAAAG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6413_177+6418delinsATAAAG
ENST00000466414.1:n.325+130_326-136delinsCTTTAT (GLA)
ENST00000493905.6:c.*387+130_*388-136delinsCTTTAT (GLA)	ENSP00000476935.1:n.*387+130_*388-136delinsCTTTAT
NM_000169.2:c.999+130_1000-136delinsCTTTAT , LRG_672t1:c.999+130_1000-136delinsCTTTAT (GLA)	NP_000160.1:n.999+130_1000-136delinsCTTTAT
NM_001199973.1:c.408+2778_408+2783delinsATAAAG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2778_408+2783delinsATAAAG
NM_001199974.1:c.285+6413_285+6418delinsATAAAG (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6413_285+6418delinsATAAAG
XR_938397.1:n.1084+130_1085-136delinsCTTTAT (GLA)
XR_938397.2:n.1105+130_1106-136delinsCTTTAT (GLA)
NM_001199973.2:c.300+2778_300+2783delinsATAAAG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2778_300+2783delinsATAAAG
NM_001199974.2:c.177+6413_177+6418delinsATAAAG (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6413_177+6418delinsATAAAG
NM_000169.3:c.999+130_1000-136delinsCTTTAT (GLA) MANE Select	NP_000160.1:n.999+130_1000-136delinsCTTTAT
NR_164783.1:n.1078+130_1079-136delinsCTTTAT (GLA)