Canonical Allele Identifier: CA2522288387

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398985_101398988del , CM000685.2:g.101398985_101398988del	GRCh38
NC_000023.10:g.100653973_100653976del , CM000685.1:g.100653973_100653976del	GRCh37
NC_000023.9:g.100540629_100540632del	NCBI36
NG_007119.1:g.13978_13981del , LRG_672:g.13978_13981del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-40_*86-37del (GLA)	ENSP00000501124.2:n.*86-40_*86-37del
ENST00000674127.2:c.*143-40_*143-37del (GLA)	ENSP00000501044.2:n.*143-40_*143-37del
ENST00000710365.1:c.715-40_715-37del (GLA)	ENSP00000518234.1:n.715-40_715-37del
ENST00000218516.4:c.640-40_640-37del (GLA) MANE Select	ENSP00000218516.4:n.640-40_640-37del
ENST00000466414.2:n.559-40_559-37del (GLA)
ENST00000468823.2:n.1575-40_1575-37del (GLA)
ENST00000479445.2:n.1037-40_1037-37del (GLA)
ENST00000480513.6:c.548-40_548-37del (GLA)	ENSP00000497055.1:n.548-40_548-37del
ENST00000486121.6:c.685-40_685-37del (GLA)
ENST00000649178.1:c.763-40_763-37del (GLA)	ENSP00000498186.1:n.763-40_763-37del
ENST00000674127.1:c.740-40_740-37del (GLA)	ENSP00000501044.1:n.740-40_740-37del
ENST00000674142.1:n.727-40_727-37del (GLA)
ENST00000674634.2:c.640-40_640-37del (GLA)	ENSP00000502629.2:n.640-40_640-37del
ENST00000675592.1:c.640-40_640-37del (GLA)	ENSP00000502239.1:n.640-40_640-37del
ENST00000675799.1:c.548-40_548-37del (GLA)	ENSP00000502661.1:n.548-40_548-37del
ENST00000675968.1:n.3254_3257del (GLA)
ENST00000676156.1:c.604-40_604-37del (GLA)	ENSP00000501730.1:n.604-40_604-37del
ENST00000676372.1:c.640-40_640-37del (GLA)	ENSP00000502805.1:n.640-40_640-37del
ENST00000218516.3:c.640-40_640-37del (GLA)	ENSP00000218516.3:n.640-40_640-37del
ENST00000409170.3:c.300+3528_300+3531del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3528_300+3531del
ENST00000409338.5:c.177+7163_177+7166del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7163_177+7166del
ENST00000468823.1:n.189-40_189-37del (GLA)
ENST00000480513.5:n.478-40_478-37del (GLA)
ENST00000486121.5:n.685-40_685-37del (GLA)
ENST00000493905.6:c.*28-40_*28-37del (GLA)	ENSP00000476935.1:n.*28-40_*28-37del
NM_000169.2:c.640-40_640-37del , LRG_672t1:c.640-40_640-37del (GLA)	NP_000160.1:n.640-40_640-37del
NM_001199973.1:c.408+3528_408+3531del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3528_408+3531del
NM_001199974.1:c.285+7163_285+7166del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7163_285+7166del
XR_938397.1:n.725-40_725-37del (GLA)
XR_938397.2:n.746-40_746-37del (GLA)
NM_001199973.2:c.300+3528_300+3531del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3528_300+3531del
NM_001199974.2:c.177+7163_177+7166del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7163_177+7166del
NM_000169.3:c.640-40_640-37del (GLA) MANE Select	NP_000160.1:n.640-40_640-37del
NR_164783.1:n.719-40_719-37del (GLA)