Canonical Allele Identifier: CA869305139

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs1206858829
• gnomAD v3: X-101400813-CTATATA-C
• gnomAD v4: X-101400813-CTATATA-C
• MyVariant Identifiers: chrX:g.101400814_101400819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101400818_101400823del , CM000685.2:g.101400818_101400823del	GRCh38
NC_000023.10:g.100655806_100655811del , CM000685.1:g.100655806_100655811del	GRCh37
NC_000023.9:g.100542462_100542467del	NCBI36
NG_007119.1:g.12145_12150del , LRG_672:g.12145_12150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.663-62_663-57del (GLA)	ENSP00000501124.2:n.663-62_663-57del
ENST00000674127.2:c.663-62_663-57del (GLA)	ENSP00000501044.2:n.663-62_663-57del
ENST00000710365.1:c.623-62_623-57del (GLA)	ENSP00000518234.1:n.623-62_623-57del
ENST00000218516.4:c.548-62_548-57del (GLA) MANE Select	ENSP00000218516.4:n.548-62_548-57del
ENST00000466414.2:n.467-62_467-57del (GLA)
ENST00000468823.2:n.1421_1426del (GLA)
ENST00000479445.2:n.945-62_945-57del (GLA)
ENST00000480513.6:c.547+813_547+818del (GLA)	ENSP00000497055.1:n.547+813_547+818del
ENST00000486121.6:c.593-62_593-57del (GLA)
ENST00000649178.1:c.671-62_671-57del (GLA)	ENSP00000498186.1:n.671-62_671-57del
ENST00000674127.1:c.591-62_591-57del (GLA)	ENSP00000501044.1:n.591-62_591-57del
ENST00000674142.1:n.635-62_635-57del (GLA)
ENST00000674634.2:c.548-62_548-57del (GLA)	ENSP00000502629.2:n.548-62_548-57del
ENST00000675592.1:c.548-62_548-57del (GLA)	ENSP00000502239.1:n.548-62_548-57del
ENST00000675799.1:c.547+813_547+818del (GLA)	ENSP00000502661.1:n.547+813_547+818del
ENST00000675968.1:n.1421_1426del (GLA)
ENST00000676156.1:c.512-62_512-57del (GLA)	ENSP00000501730.1:n.512-62_512-57del
ENST00000676372.1:c.548-62_548-57del (GLA)	ENSP00000502805.1:n.548-62_548-57del
ENST00000218516.3:c.548-62_548-57del (GLA)	ENSP00000218516.3:n.548-62_548-57del
ENST00000409170.3:c.300+5361_300+5366del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+5361_300+5366del
ENST00000409338.5:c.177+8996_177+9001del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+8996_177+9001del
ENST00000468823.1:n.35_40del (GLA)
ENST00000480513.5:n.477+813_477+818del (GLA)
ENST00000486121.5:n.593-62_593-57del (GLA)
ENST00000493905.6:c.548-62_548-57del (GLA)	ENSP00000476935.1:n.548-62_548-57del
NM_000169.2:c.548-62_548-57del , LRG_672t1:c.548-62_548-57del (GLA)	NP_000160.1:n.548-62_548-57del
NM_001199973.1:c.408+5361_408+5366del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+5361_408+5366del
NM_001199974.1:c.285+8996_285+9001del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+8996_285+9001del
XR_938397.1:n.576-62_576-57del (GLA)
XR_938397.2:n.597-62_597-57del (GLA)
NM_001199973.2:c.300+5361_300+5366del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+5361_300+5366del
NM_001199974.2:c.177+8996_177+9001del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+8996_177+9001del
NM_000169.3:c.548-62_548-57del (GLA) MANE Select	NP_000160.1:n.548-62_548-57del
NR_164783.1:n.570-62_570-57del (GLA)