Canonical Allele Identifier: CA2448298264

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101399005_101399007delinsAAC , CM000685.2:g.101399005_101399007delinsAAC	GRCh38
NC_000023.10:g.100653993_100653995delinsAAC , CM000685.1:g.100653993_100653995delinsAAC	GRCh37
NC_000023.9:g.100540649_100540651delinsAAC	NCBI36
NG_007119.1:g.13957_13959delinsGTT , LRG_672:g.13957_13959delinsGTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-61_*86-59delinsGTT (GLA)	ENSP00000501124.2:n.*86-61_*86-59delinsGTT
ENST00000674127.2:c.*143-61_*143-59delinsGTT (GLA)	ENSP00000501044.2:n.*143-61_*143-59delinsGTT
ENST00000710365.1:c.715-61_715-59delinsGTT (GLA)	ENSP00000518234.1:n.715-61_715-59delinsGTT
ENST00000218516.4:c.640-61_640-59delinsGTT (GLA) MANE Select	ENSP00000218516.4:n.640-61_640-59delinsGTT
ENST00000466414.2:n.559-61_559-59delinsGTT (GLA)
ENST00000468823.2:n.1575-61_1575-59delinsGTT (GLA)
ENST00000479445.2:n.1037-61_1037-59delinsGTT (GLA)
ENST00000480513.6:c.548-61_548-59delinsGTT (GLA)	ENSP00000497055.1:n.548-61_548-59delinsGTT
ENST00000486121.6:c.685-61_685-59delinsGTT (GLA)
ENST00000649178.1:c.763-61_763-59delinsGTT (GLA)	ENSP00000498186.1:n.763-61_763-59delinsGTT
ENST00000674127.1:c.740-61_740-59delinsGTT (GLA)	ENSP00000501044.1:n.740-61_740-59delinsGTT
ENST00000674142.1:n.727-61_727-59delinsGTT (GLA)
ENST00000674634.2:c.640-61_640-59delinsGTT (GLA)	ENSP00000502629.2:n.640-61_640-59delinsGTT
ENST00000675592.1:c.640-61_640-59delinsGTT (GLA)	ENSP00000502239.1:n.640-61_640-59delinsGTT
ENST00000675799.1:c.548-61_548-59delinsGTT (GLA)	ENSP00000502661.1:n.548-61_548-59delinsGTT
ENST00000675968.1:n.3233_3235delinsGTT (GLA)
ENST00000676156.1:c.604-61_604-59delinsGTT (GLA)	ENSP00000501730.1:n.604-61_604-59delinsGTT
ENST00000676372.1:c.640-61_640-59delinsGTT (GLA)	ENSP00000502805.1:n.640-61_640-59delinsGTT
ENST00000218516.3:c.640-61_640-59delinsGTT (GLA)	ENSP00000218516.3:n.640-61_640-59delinsGTT
ENST00000409170.3:c.300+3548_300+3550delinsAAC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3548_300+3550delinsAAC
ENST00000409338.5:c.177+7183_177+7185delinsAAC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7183_177+7185delinsAAC
ENST00000468823.1:n.189-61_189-59delinsGTT (GLA)
ENST00000480513.5:n.478-61_478-59delinsGTT (GLA)
ENST00000486121.5:n.685-61_685-59delinsGTT (GLA)
ENST00000493905.6:c.*28-61_*28-59delinsGTT (GLA)	ENSP00000476935.1:n.*28-61_*28-59delinsGTT
NM_000169.2:c.640-61_640-59delinsGTT , LRG_672t1:c.640-61_640-59delinsGTT (GLA)	NP_000160.1:n.640-61_640-59delinsGTT
NM_001199973.1:c.408+3548_408+3550delinsAAC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3548_408+3550delinsAAC
NM_001199974.1:c.285+7183_285+7185delinsAAC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7183_285+7185delinsAAC
XR_938397.1:n.725-61_725-59delinsGTT (GLA)
XR_938397.2:n.746-61_746-59delinsGTT (GLA)
NM_001199973.2:c.300+3548_300+3550delinsAAC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3548_300+3550delinsAAC
NM_001199974.2:c.177+7183_177+7185delinsAAC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7183_177+7185delinsAAC
NM_000169.3:c.640-61_640-59delinsGTT (GLA) MANE Select	NP_000160.1:n.640-61_640-59delinsGTT
NR_164783.1:n.719-61_719-59delinsGTT (GLA)