Canonical Allele Identifier: CA2697544663

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 2741009
• ClinVar RCV Id: RCV003509191

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398961_101398962del , CM000685.2:g.101398961_101398962del	GRCh38
NC_000023.10:g.100653949_100653950del , CM000685.1:g.100653949_100653950del	GRCh37
NC_000023.9:g.100540605_100540606del	NCBI36
NG_007119.1:g.14004_14005del , LRG_672:g.14004_14005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*86-14_*86-13del (GLA)	ENSP00000501124.2:n.*86-14_*86-13del
ENST00000674127.2:c.*143-14_*143-13del (GLA)	ENSP00000501044.2:n.*143-14_*143-13del
ENST00000710365.1:c.715-14_715-13del (GLA)	ENSP00000518234.1:n.715-14_715-13del
ENST00000218516.4:c.640-14_640-13del (GLA) MANE Select	ENSP00000218516.4:n.640-14_640-13del
ENST00000466414.2:n.559-14_559-13del (GLA)
ENST00000468823.2:n.1575-14_1575-13del (GLA)
ENST00000479445.2:n.1037-14_1037-13del (GLA)
ENST00000480513.6:c.548-14_548-13del (GLA)	ENSP00000497055.1:n.548-14_548-13del
ENST00000486121.6:c.685-14_685-13del (GLA)
ENST00000649178.1:c.763-14_763-13del (GLA)	ENSP00000498186.1:n.763-14_763-13del
ENST00000674127.1:c.740-14_740-13del (GLA)	ENSP00000501044.1:n.740-14_740-13del
ENST00000674142.1:n.727-14_727-13del (GLA)
ENST00000674634.2:c.640-14_640-13del (GLA)	ENSP00000502629.2:n.640-14_640-13del
ENST00000675592.1:c.640-14_640-13del (GLA)	ENSP00000502239.1:n.640-14_640-13del
ENST00000675799.1:c.548-14_548-13del (GLA)	ENSP00000502661.1:n.548-14_548-13del
ENST00000675968.1:n.3280_3281del (GLA)
ENST00000676156.1:c.604-14_604-13del (GLA)	ENSP00000501730.1:n.604-14_604-13del
ENST00000676372.1:c.640-14_640-13del (GLA)	ENSP00000502805.1:n.640-14_640-13del
ENST00000218516.3:c.640-14_640-13del (GLA)	ENSP00000218516.3:n.640-14_640-13del
ENST00000409170.3:c.300+3504_300+3505del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3504_300+3505del
ENST00000409338.5:c.177+7139_177+7140del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7139_177+7140del
ENST00000468823.1:n.189-14_189-13del (GLA)
ENST00000480513.5:n.478-14_478-13del (GLA)
ENST00000486121.5:n.685-14_685-13del (GLA)
ENST00000493905.6:c.*28-14_*28-13del (GLA)	ENSP00000476935.1:n.*28-14_*28-13del
NM_000169.2:c.640-14_640-13del , LRG_672t1:c.640-14_640-13del (GLA)	NP_000160.1:n.640-14_640-13del
NM_001199973.1:c.408+3504_408+3505del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3504_408+3505del
NM_001199974.1:c.285+7139_285+7140del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7139_285+7140del
XR_938397.1:n.725-14_725-13del (GLA)
XR_938397.2:n.746-14_746-13del (GLA)
NM_001199973.2:c.300+3504_300+3505del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3504_300+3505del
NM_001199974.2:c.177+7139_177+7140del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7139_177+7140del
NM_000169.3:c.640-14_640-13del (GLA) MANE Select	NP_000160.1:n.640-14_640-13del
NR_164783.1:n.719-14_719-13del (GLA)