Canonical Allele Identifier: CA352501

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312326
• MyVariant Identifiers: chrX:g.100656024_100656035del (hg19) ; chrX:g.101401036_101401047del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401036_101401047del , CM000685.2:g.101401036_101401047del	GRCh38
NC_000023.10:g.100656024_100656035del , CM000685.1:g.100656024_100656035del	GRCh37
NC_000023.9:g.100542680_100542691del	NCBI36
NG_007119.1:g.11917_11928del , LRG_672:g.11917_11928del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.662+186_662+197del (GLA)	ENSP00000501124.2:n.662+186_662+197del
ENST00000674127.2:c.662+186_662+197del (GLA)	ENSP00000501044.2:n.662+186_662+197del
ENST00000710365.1:c.623-290_623-279del (GLA)	ENSP00000518234.1:n.623-290_623-279del
ENST00000218516.4:c.548-290_548-279del (GLA) MANE Select	ENSP00000218516.4:n.548-290_548-279del
ENST00000466414.2:n.467-290_467-279del (GLA)
ENST00000468823.2:n.1193_1204del (GLA)
ENST00000479445.2:n.944+186_944+197del (GLA)
ENST00000480513.6:c.547+585_547+596del (GLA)	ENSP00000497055.1:n.547+585_547+596del
ENST00000486121.6:c.592+186_592+197del (GLA)
ENST00000649178.1:c.671-290_671-279del (GLA)	ENSP00000498186.1:n.671-290_671-279del
ENST00000674127.1:c.590+186_590+197del (GLA)	ENSP00000501044.1:n.590+186_590+197del
ENST00000674142.1:n.635-290_635-279del (GLA)
ENST00000674634.2:c.548-290_548-279del (GLA)	ENSP00000502629.2:n.548-290_548-279del
ENST00000675592.1:c.548-290_548-279del (GLA)	ENSP00000502239.1:n.548-290_548-279del
ENST00000675799.1:c.547+585_547+596del (GLA)	ENSP00000502661.1:n.547+585_547+596del
ENST00000675968.1:n.1193_1204del (GLA)
ENST00000676156.1:c.512-290_512-279del (GLA)	ENSP00000501730.1:n.512-290_512-279del
ENST00000676372.1:c.548-290_548-279del (GLA)	ENSP00000502805.1:n.548-290_548-279del
ENST00000218516.3:c.548-290_548-279del (GLA)	ENSP00000218516.3:n.548-290_548-279del
ENST00000409170.3:c.300+5579_300+5590del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5579_300+5590del
ENST00000409338.5:c.177+9214_177+9225del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9214_177+9225del
ENST00000480513.5:n.477+585_477+596del (GLA)
ENST00000486121.5:n.592+186_592+197del (GLA)
ENST00000493905.6:c.548-290_548-279del (GLA)	ENSP00000476935.1:n.548-290_548-279del
NM_000169.2:c.548-290_548-279del , LRG_672t1:c.548-290_548-279del (GLA)	NP_000160.1:n.548-290_548-279del
NM_001199973.1:c.408+5579_408+5590del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5579_408+5590del
NM_001199974.1:c.285+9214_285+9225del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9214_285+9225del
XR_938397.1:n.576-290_576-279del (GLA)
XR_938397.2:n.597-290_597-279del (GLA)
NM_001199973.2:c.300+5579_300+5590del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5579_300+5590del
NM_001199974.2:c.177+9214_177+9225del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9214_177+9225del
NM_000169.3:c.548-290_548-279del (GLA) MANE Select	NP_000160.1:n.548-290_548-279del
NR_164783.1:n.570-290_570-279del (GLA)