Canonical Allele Identifier: CA2448297877

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398140_101398141delinsTA , CM000685.2:g.101398140_101398141delinsTA	GRCh38
NC_000023.10:g.100653128_100653129delinsTA , CM000685.1:g.100653128_100653129delinsTA	GRCh37
NC_000023.9:g.100539784_100539785delinsTA	NCBI36
NG_007119.1:g.14823_14824delinsTA , LRG_672:g.14823_14824delinsTA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-42_*446-41delinsTA (GLA)	ENSP00000501124.2:n.*446-42_*446-41delinsTA
ENST00000674127.2:c.*503-42_*503-41delinsTA (GLA)	ENSP00000501044.2:n.*503-42_*503-41delinsTA
ENST00000710365.1:c.1075-42_1075-41delinsTA (GLA)	ENSP00000518234.1:n.1075-42_1075-41delinsTA
ENST00000218516.4:c.1000-42_1000-41delinsTA (GLA) MANE Select	ENSP00000218516.4:n.1000-42_1000-41delinsTA
ENST00000466414.2:n.1136-42_1136-41delinsTA (GLA)
ENST00000468823.2:n.2380_2381delinsTA (GLA)
ENST00000479445.2:n.1614-42_1614-41delinsTA (GLA)
ENST00000480513.6:c.*308-42_*308-41delinsTA (GLA)	ENSP00000497055.1:n.*308-42_*308-41delinsTA
ENST00000486121.6:c.1045-42_1045-41delinsTA (GLA)
ENST00000649178.1:c.1123-42_1123-41delinsTA (GLA)	ENSP00000498186.1:n.1123-42_1123-41delinsTA
ENST00000674127.1:c.1100-42_1100-41delinsTA (GLA)	ENSP00000501044.1:n.1100-42_1100-41delinsTA
ENST00000674142.1:n.1304-42_1304-41delinsTA (GLA)
ENST00000675592.1:c.802-42_802-41delinsTA (GLA)	ENSP00000502239.1:n.802-42_802-41delinsTA
ENST00000675799.1:c.*525-42_*525-41delinsTA (GLA)	ENSP00000502661.1:n.*525-42_*525-41delinsTA
ENST00000675968.1:n.3871-42_3871-41delinsTA (GLA)
ENST00000676156.1:c.964-42_964-41delinsTA (GLA)	ENSP00000501730.1:n.964-42_964-41delinsTA
ENST00000676372.1:c.1066-42_1066-41delinsTA (GLA)	ENSP00000502805.1:n.1066-42_1066-41delinsTA
ENST00000218516.3:c.1000-42_1000-41delinsTA (GLA)	ENSP00000218516.3:n.1000-42_1000-41delinsTA
ENST00000409170.3:c.300+2683_300+2684delinsTA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2683_300+2684delinsTA
ENST00000409338.5:c.177+6318_177+6319delinsTA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6318_177+6319delinsTA
ENST00000466414.1:n.326-42_326-41delinsTA (GLA)
ENST00000493905.6:c.*388-42_*388-41delinsTA (GLA)	ENSP00000476935.1:n.*388-42_*388-41delinsTA
NM_000169.2:c.1000-42_1000-41delinsTA , LRG_672t1:c.1000-42_1000-41delinsTA (GLA)	NP_000160.1:n.1000-42_1000-41delinsTA
NM_001199973.1:c.408+2683_408+2684delinsTA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2683_408+2684delinsTA
NM_001199974.1:c.285+6318_285+6319delinsTA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6318_285+6319delinsTA
XR_938397.1:n.1085-42_1085-41delinsTA (GLA)
XR_938397.2:n.1106-42_1106-41delinsTA (GLA)
NM_001199973.2:c.300+2683_300+2684delinsTA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2683_300+2684delinsTA
NM_001199974.2:c.177+6318_177+6319delinsTA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6318_177+6319delinsTA
NM_000169.3:c.1000-42_1000-41delinsTA (GLA) MANE Select	NP_000160.1:n.1000-42_1000-41delinsTA
NR_164783.1:n.1079-42_1079-41delinsTA (GLA)