Canonical Allele Identifier: CA1135845767

Gene: GLA RPL36A-HNRNPH2

Linked Data

• gnomAD v3: X-101398948-T-TTTTGAAAG
• gnomAD v4: X-101398948-T-TTTTGAAAG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398948_101398949insTTTGAAAG , CM000685.2:g.101398948_101398949insTTTGAAAG	GRCh38
NC_000023.10:g.100653936_100653937insTTTGAAAG , CM000685.1:g.100653936_100653937insTTTGAAAG	GRCh37
NC_000023.9:g.100540592_100540593insTTTGAAAG	NCBI36
NG_007119.1:g.14015_14016insCTTTCAAA , LRG_672:g.14015_14016insCTTTCAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-3_*86-2insCTTTCAAA (GLA)	ENSP00000501124.2:n.*86-3_*86-2insCTTTCAAA
ENST00000674127.2:c.*143-3_*143-2insCTTTCAAA (GLA)	ENSP00000501044.2:n.*143-3_*143-2insCTTTCAAA
ENST00000710365.1:c.715-3_715-2insCTTTCAAA (GLA)	ENSP00000518234.1:n.715-3_715-2insCTTTCAAA
ENST00000218516.4:c.640-3_640-2insCTTTCAAA (GLA) MANE Select	ENSP00000218516.4:n.640-3_640-2insCTTTCAAA
ENST00000466414.2:n.559-3_559-2insCTTTCAAA (GLA)
ENST00000468823.2:n.1575-3_1575-2insCTTTCAAA (GLA)
ENST00000479445.2:n.1037-3_1037-2insCTTTCAAA (GLA)
ENST00000480513.6:c.548-3_548-2insCTTTCAAA (GLA)	ENSP00000497055.1:n.548-3_548-2insCTTTCAAA
ENST00000486121.6:c.685-3_685-2insCTTTCAAA (GLA)
ENST00000649178.1:c.763-3_763-2insCTTTCAAA (GLA)	ENSP00000498186.1:n.763-3_763-2insCTTTCAAA
ENST00000674127.1:c.740-3_740-2insCTTTCAAA (GLA)	ENSP00000501044.1:n.740-3_740-2insCTTTCAAA
ENST00000674142.1:n.727-3_727-2insCTTTCAAA (GLA)
ENST00000674634.2:c.640-3_640-2insCTTTCAAA (GLA)	ENSP00000502629.2:n.640-3_640-2insCTTTCAAA
ENST00000675592.1:c.640-3_640-2insCTTTCAAA (GLA)	ENSP00000502239.1:n.640-3_640-2insCTTTCAAA
ENST00000675799.1:c.548-3_548-2insCTTTCAAA (GLA)	ENSP00000502661.1:n.548-3_548-2insCTTTCAAA
ENST00000675968.1:n.3291_3292insCTTTCAAA (GLA)
ENST00000676156.1:c.604-3_604-2insCTTTCAAA (GLA)	ENSP00000501730.1:n.604-3_604-2insCTTTCAAA
ENST00000676372.1:c.640-3_640-2insCTTTCAAA (GLA)	ENSP00000502805.1:n.640-3_640-2insCTTTCAAA
ENST00000218516.3:c.640-3_640-2insCTTTCAAA (GLA)	ENSP00000218516.3:n.640-3_640-2insCTTTCAAA
ENST00000409170.3:c.300+3491_300+3492insTTTGAAAG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3491_300+3492insTTTGAAAG
ENST00000409338.5:c.177+7126_177+7127insTTTGAAAG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7126_177+7127insTTTGAAAG
ENST00000468823.1:n.189-3_189-2insCTTTCAAA (GLA)
ENST00000480513.5:n.478-3_478-2insCTTTCAAA (GLA)
ENST00000486121.5:n.685-3_685-2insCTTTCAAA (GLA)
ENST00000493905.6:c.*28-3_*28-2insCTTTCAAA (GLA)	ENSP00000476935.1:n.*28-3_*28-2insCTTTCAAA
NM_000169.2:c.640-3_640-2insCTTTCAAA , LRG_672t1:c.640-3_640-2insCTTTCAAA (GLA)	NP_000160.1:n.640-3_640-2insCTTTCAAA
NM_001199973.1:c.408+3491_408+3492insTTTGAAAG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3491_408+3492insTTTGAAAG
NM_001199974.1:c.285+7126_285+7127insTTTGAAAG (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7126_285+7127insTTTGAAAG
XR_938397.1:n.725-3_725-2insCTTTCAAA (GLA)
XR_938397.2:n.746-3_746-2insCTTTCAAA (GLA)
NM_001199973.2:c.300+3491_300+3492insTTTGAAAG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3491_300+3492insTTTGAAAG
NM_001199974.2:c.177+7126_177+7127insTTTGAAAG (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7126_177+7127insTTTGAAAG
NM_000169.3:c.640-3_640-2insCTTTCAAA (GLA) MANE Select	NP_000160.1:n.640-3_640-2insCTTTCAAA
NR_164783.1:n.719-3_719-2insCTTTCAAA (GLA)