Canonical Allele Identifier: CA1135845820

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1928205165
• gnomAD v3: X-101399064-AAGG-A
• gnomAD v4: X-101399064-AAGG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101399068_101399070del , CM000685.2:g.101399068_101399070del	GRCh38
NC_000023.10:g.100654056_100654058del , CM000685.1:g.100654056_100654058del	GRCh37
NC_000023.9:g.100540712_100540714del	NCBI36
NG_007119.1:g.13897_13899del , LRG_672:g.13897_13899del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-121_*86-119del (GLA)	ENSP00000501124.2:n.*86-121_*86-119del
ENST00000674127.2:c.*143-121_*143-119del (GLA)	ENSP00000501044.2:n.*143-121_*143-119del
ENST00000710365.1:c.715-121_715-119del (GLA)	ENSP00000518234.1:n.715-121_715-119del
ENST00000218516.4:c.640-121_640-119del (GLA) MANE Select	ENSP00000218516.4:n.640-121_640-119del
ENST00000466414.2:n.559-121_559-119del (GLA)
ENST00000468823.2:n.1575-121_1575-119del (GLA)
ENST00000479445.2:n.1037-121_1037-119del (GLA)
ENST00000480513.6:c.548-121_548-119del (GLA)	ENSP00000497055.1:n.548-121_548-119del
ENST00000486121.6:c.685-121_685-119del (GLA)
ENST00000649178.1:c.763-121_763-119del (GLA)	ENSP00000498186.1:n.763-121_763-119del
ENST00000674127.1:c.740-121_740-119del (GLA)	ENSP00000501044.1:n.740-121_740-119del
ENST00000674142.1:n.727-121_727-119del (GLA)
ENST00000674634.2:c.640-121_640-119del (GLA)	ENSP00000502629.2:n.640-121_640-119del
ENST00000675592.1:c.640-121_640-119del (GLA)	ENSP00000502239.1:n.640-121_640-119del
ENST00000675799.1:c.548-121_548-119del (GLA)	ENSP00000502661.1:n.548-121_548-119del
ENST00000675968.1:n.3173_3175del (GLA)
ENST00000676156.1:c.604-121_604-119del (GLA)	ENSP00000501730.1:n.604-121_604-119del
ENST00000676372.1:c.640-121_640-119del (GLA)	ENSP00000502805.1:n.640-121_640-119del
ENST00000218516.3:c.640-121_640-119del (GLA)	ENSP00000218516.3:n.640-121_640-119del
ENST00000409170.3:c.300+3611_300+3613del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3611_300+3613del
ENST00000409338.5:c.177+7246_177+7248del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7246_177+7248del
ENST00000468823.1:n.189-121_189-119del (GLA)
ENST00000480513.5:n.478-121_478-119del (GLA)
ENST00000486121.5:n.685-121_685-119del (GLA)
ENST00000493905.6:c.*28-121_*28-119del (GLA)	ENSP00000476935.1:n.*28-121_*28-119del
NM_000169.2:c.640-121_640-119del , LRG_672t1:c.640-121_640-119del (GLA)	NP_000160.1:n.640-121_640-119del
NM_001199973.1:c.408+3611_408+3613del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3611_408+3613del
NM_001199974.1:c.285+7246_285+7248del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7246_285+7248del
XR_938397.1:n.725-121_725-119del (GLA)
XR_938397.2:n.746-121_746-119del (GLA)
NM_001199973.2:c.300+3611_300+3613del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3611_300+3613del
NM_001199974.2:c.177+7246_177+7248del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7246_177+7248del
NM_000169.3:c.640-121_640-119del (GLA) MANE Select	NP_000160.1:n.640-121_640-119del
NR_164783.1:n.719-121_719-119del (GLA)