Canonical Allele Identifier: CA2448297893

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398166_101398170delinsATTCT , CM000685.2:g.101398166_101398170delinsATTCT	GRCh38
NC_000023.10:g.100653154_100653158delinsATTCT , CM000685.1:g.100653154_100653158delinsATTCT	GRCh37
NC_000023.9:g.100539810_100539814delinsATTCT	NCBI36
NG_007119.1:g.14794_14798delinsAGAAT , LRG_672:g.14794_14798delinsAGAAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*446-71_*446-67delinsAGAAT (GLA)	ENSP00000501124.2:n.*446-71_*446-67delinsAGAAT
ENST00000674127.2:c.*503-71_*503-67delinsAGAAT (GLA)	ENSP00000501044.2:n.*503-71_*503-67delinsAGAAT
ENST00000710365.1:c.1075-71_1075-67delinsAGAAT (GLA)	ENSP00000518234.1:n.1075-71_1075-67delinsAGAAT
ENST00000218516.4:c.1000-71_1000-67delinsAGAAT (GLA) MANE Select	ENSP00000218516.4:n.1000-71_1000-67delinsAGAAT
ENST00000466414.2:n.1136-71_1136-67delinsAGAAT (GLA)
ENST00000468823.2:n.2351_2355delinsAGAAT (GLA)
ENST00000479445.2:n.1614-71_1614-67delinsAGAAT (GLA)
ENST00000480513.6:c.*308-71_*308-67delinsAGAAT (GLA)	ENSP00000497055.1:n.*308-71_*308-67delinsAGAAT
ENST00000486121.6:c.1045-71_1045-67delinsAGAAT (GLA)
ENST00000649178.1:c.1123-71_1123-67delinsAGAAT (GLA)	ENSP00000498186.1:n.1123-71_1123-67delinsAGAAT
ENST00000674127.1:c.1100-71_1100-67delinsAGAAT (GLA)	ENSP00000501044.1:n.1100-71_1100-67delinsAGAAT
ENST00000674142.1:n.1304-71_1304-67delinsAGAAT (GLA)
ENST00000675592.1:c.802-71_802-67delinsAGAAT (GLA)	ENSP00000502239.1:n.802-71_802-67delinsAGAAT
ENST00000675799.1:c.*525-71_*525-67delinsAGAAT (GLA)	ENSP00000502661.1:n.*525-71_*525-67delinsAGAAT
ENST00000675968.1:n.3871-71_3871-67delinsAGAAT (GLA)
ENST00000676156.1:c.964-71_964-67delinsAGAAT (GLA)	ENSP00000501730.1:n.964-71_964-67delinsAGAAT
ENST00000676372.1:c.1066-71_1066-67delinsAGAAT (GLA)	ENSP00000502805.1:n.1066-71_1066-67delinsAGAAT
ENST00000218516.3:c.1000-71_1000-67delinsAGAAT (GLA)	ENSP00000218516.3:n.1000-71_1000-67delinsAGAAT
ENST00000409170.3:c.300+2709_300+2713delinsATTCT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2709_300+2713delinsATTCT
ENST00000409338.5:c.177+6344_177+6348delinsATTCT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6344_177+6348delinsATTCT
ENST00000466414.1:n.326-71_326-67delinsAGAAT (GLA)
ENST00000493905.6:c.*388-71_*388-67delinsAGAAT (GLA)	ENSP00000476935.1:n.*388-71_*388-67delinsAGAAT
NM_000169.2:c.1000-71_1000-67delinsAGAAT , LRG_672t1:c.1000-71_1000-67delinsAGAAT (GLA)	NP_000160.1:n.1000-71_1000-67delinsAGAAT
NM_001199973.1:c.408+2709_408+2713delinsATTCT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2709_408+2713delinsATTCT
NM_001199974.1:c.285+6344_285+6348delinsATTCT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6344_285+6348delinsATTCT
XR_938397.1:n.1085-71_1085-67delinsAGAAT (GLA)
XR_938397.2:n.1106-71_1106-67delinsAGAAT (GLA)
NM_001199973.2:c.300+2709_300+2713delinsATTCT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2709_300+2713delinsATTCT
NM_001199974.2:c.177+6344_177+6348delinsATTCT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6344_177+6348delinsATTCT
NM_000169.3:c.1000-71_1000-67delinsAGAAT (GLA) MANE Select	NP_000160.1:n.1000-71_1000-67delinsAGAAT
NR_164783.1:n.1079-71_1079-67delinsAGAAT (GLA)