Canonical Allele Identifier: CA2448298864

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1928289111
• gnomAD v4: X-101400787-GGAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400792_101400795del , CM000685.2:g.101400792_101400795del	GRCh38
NC_000023.10:g.100655780_100655783del , CM000685.1:g.100655780_100655783del	GRCh37
NC_000023.9:g.100542436_100542439del	NCBI36
NG_007119.1:g.12173_12176del , LRG_672:g.12173_12176del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.663-34_663-31del (GLA)	ENSP00000501124.2:n.663-34_663-31del
ENST00000674127.2:c.663-34_663-31del (GLA)	ENSP00000501044.2:n.663-34_663-31del
ENST00000710365.1:c.623-34_623-31del (GLA)	ENSP00000518234.1:n.623-34_623-31del
ENST00000218516.4:c.548-34_548-31del (GLA) MANE Select	ENSP00000218516.4:n.548-34_548-31del
ENST00000466414.2:n.467-34_467-31del (GLA)
ENST00000468823.2:n.1449_1452del (GLA)
ENST00000479445.2:n.945-34_945-31del (GLA)
ENST00000480513.6:c.547+841_547+844del (GLA)	ENSP00000497055.1:n.547+841_547+844del
ENST00000486121.6:c.593-34_593-31del (GLA)
ENST00000649178.1:c.671-34_671-31del (GLA)	ENSP00000498186.1:n.671-34_671-31del
ENST00000674127.1:c.591-34_591-31del (GLA)	ENSP00000501044.1:n.591-34_591-31del
ENST00000674142.1:n.635-34_635-31del (GLA)
ENST00000674634.2:c.548-34_548-31del (GLA)	ENSP00000502629.2:n.548-34_548-31del
ENST00000675592.1:c.548-34_548-31del (GLA)	ENSP00000502239.1:n.548-34_548-31del
ENST00000675799.1:c.547+841_547+844del (GLA)	ENSP00000502661.1:n.547+841_547+844del
ENST00000675968.1:n.1449_1452del (GLA)
ENST00000676156.1:c.512-34_512-31del (GLA)	ENSP00000501730.1:n.512-34_512-31del
ENST00000676372.1:c.548-34_548-31del (GLA)	ENSP00000502805.1:n.548-34_548-31del
ENST00000218516.3:c.548-34_548-31del (GLA)	ENSP00000218516.3:n.548-34_548-31del
ENST00000409170.3:c.300+5335_300+5338del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5335_300+5338del
ENST00000409338.5:c.177+8970_177+8973del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8970_177+8973del
ENST00000468823.1:n.63_66del (GLA)
ENST00000480513.5:n.477+841_477+844del (GLA)
ENST00000486121.5:n.593-34_593-31del (GLA)
ENST00000493905.6:c.548-34_548-31del (GLA)	ENSP00000476935.1:n.548-34_548-31del
NM_000169.2:c.548-34_548-31del , LRG_672t1:c.548-34_548-31del (GLA)	NP_000160.1:n.548-34_548-31del
NM_001199973.1:c.408+5335_408+5338del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5335_408+5338del
NM_001199974.1:c.285+8970_285+8973del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8970_285+8973del
XR_938397.1:n.576-34_576-31del (GLA)
XR_938397.2:n.597-34_597-31del (GLA)
NM_001199973.2:c.300+5335_300+5338del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5335_300+5338del
NM_001199974.2:c.177+8970_177+8973del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8970_177+8973del
NM_000169.3:c.548-34_548-31del (GLA) MANE Select	NP_000160.1:n.548-34_548-31del
NR_164783.1:n.570-34_570-31del (GLA)