Canonical Allele Identifier: CA352828

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312451
• MyVariant Identifiers: chrX:g.100653391_100653411del (hg19) ; chrX:g.101398403_101398423del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398408_101398428del , CM000685.2:g.101398408_101398428del	GRCh38
NC_000023.10:g.100653396_100653416del , CM000685.1:g.100653396_100653416del	GRCh37
NC_000023.9:g.100540052_100540072del	NCBI36
NG_007119.1:g.14541_14561del , LRG_672:g.14541_14561del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*392_*412del (GLA)	ENSP00000501124.2:n.*392_*412del
ENST00000674127.2:c.*449_*469del (GLA)	ENSP00000501044.2:n.*449_*469del
ENST00000710365.1:c.1021_1041del (GLA)	ENSP00000518234.1:p.Val341_Asp347del
ENST00000218516.4:c.946_966del (GLA) MANE Select	ENSP00000218516.4:p.Val316_Asp322del
ENST00000466414.2:n.1082_1102del (GLA)
ENST00000468823.2:n.2098_2118del (GLA)
ENST00000479445.2:n.1560_1580del (GLA)
ENST00000480513.6:c.*254_*274del (GLA)	ENSP00000497055.1:n.*254_*274del
ENST00000486121.6:c.991_1011del (GLA)
ENST00000649178.1:c.1069_1089del (GLA)	ENSP00000498186.1:p.Val357_Asp363del
ENST00000674127.1:c.1046_1066del (GLA)	ENSP00000501044.1:n.1046_1066del
ENST00000674142.1:n.1250_1270del (GLA)
ENST00000674634.2:c.946_966del (GLA)	ENSP00000502629.2:p.Val316_Asp322del
ENST00000675592.1:c.802-324_802-304del (GLA)	ENSP00000502239.1:n.802-324_802-304del
ENST00000675799.1:c.*471_*491del (GLA)	ENSP00000502661.1:n.*471_*491del
ENST00000675968.1:n.3817_3837del (GLA)
ENST00000676156.1:c.910_930del (GLA)	ENSP00000501730.1:p.Val304_Asp310del
ENST00000676372.1:c.1012_1032del (GLA)	ENSP00000502805.1:n.1012_1032del
ENST00000218516.3:c.946_966del (GLA)	ENSP00000218516.3:p.Val316_Asp322del
ENST00000409170.3:c.300+2951_300+2971del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2951_300+2971del
ENST00000409338.5:c.177+6586_177+6606del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6586_177+6606del
ENST00000466414.1:n.272_292del (GLA)
ENST00000493905.6:c.*334_*354del (GLA)	ENSP00000476935.1:n.*334_*354del
NM_000169.2:c.946_966del , LRG_672t1:c.946_966del (GLA)	NP_000160.1:p.Val316_Asp322del
NM_001199973.1:c.408+2951_408+2971del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2951_408+2971del
NM_001199974.1:c.285+6586_285+6606del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6586_285+6606del
XR_938397.1:n.1031_1051del (GLA)
XR_938397.2:n.1052_1072del (GLA)
NM_001199973.2:c.300+2951_300+2971del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2951_300+2971del
NM_001199974.2:c.177+6586_177+6606del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6586_177+6606del
NM_000169.3:c.946_966del (GLA) MANE Select	NP_000160.1:p.Val316_Asp322del
NR_164783.1:n.1025_1045del (GLA)