Canonical Allele Identifier: CA10581189

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 234993
• ClinVar RCV Id: RCV000223751 ; RCV000806628
• dbSNP Id: rs876661347
• MyVariant Identifiers: chrX:g.100652947_100652962del (hg19) ; chrX:g.101397959_101397974del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397959_101397974del , CM000685.2:g.101397959_101397974del	GRCh38
NC_000023.10:g.100652947_100652962del , CM000685.1:g.100652947_100652962del	GRCh37
NC_000023.9:g.100539603_100539618del	NCBI36
NG_007119.1:g.14990_15005del , LRG_672:g.14990_15005del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*571_*586del (GLA)	ENSP00000501124.2:n.*571_*586del
ENST00000674127.2:c.*628_*643del (GLA)	ENSP00000501044.2:n.*628_*643del
ENST00000710365.1:c.1200_1215del (GLA)	ENSP00000518234.1:p.Val401ProfsTer10
ENST00000218516.4:c.1125_1140del (GLA) MANE Select	ENSP00000218516.4:p.Val376ProfsTer10
ENST00000466414.2:n.1261_1276del (GLA)
ENST00000468823.2:n.2547_2562del (GLA)
ENST00000479445.2:n.1739_1754del (GLA)
ENST00000480513.6:c.*433_*448del (GLA)	ENSP00000497055.1:n.*433_*448del
ENST00000486121.6:c.1170_1185del (GLA)
ENST00000649178.1:c.1248_1263del (GLA)	ENSP00000498186.1:p.Val417ProfsTer10
ENST00000674127.1:c.1225_1240del (GLA)	ENSP00000501044.1:n.1225_1240del
ENST00000674142.1:n.1421+8_1421+23del (GLA)
ENST00000675592.1:c.927_942del (GLA)	ENSP00000502239.1:p.Val310ProfsTer10
ENST00000675799.1:c.*650_*665del (GLA)	ENSP00000502661.1:n.*650_*665del
ENST00000675968.1:n.3996_4011del (GLA)
ENST00000676156.1:c.1089_1104del (GLA)	ENSP00000501730.1:p.Val364ProfsTer10
ENST00000676372.1:c.1191_1206del (GLA)	ENSP00000502805.1:n.1191_1206del
ENST00000218516.3:c.1125_1140del (GLA)	ENSP00000218516.3:p.Val376ProfsTer10
ENST00000409170.3:c.300+2502_300+2517del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2502_300+2517del
ENST00000409338.5:c.177+6137_177+6152del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6137_177+6152del
ENST00000466414.1:n.451_466del (GLA)
ENST00000493905.6:c.*513_*528del (GLA)	ENSP00000476935.1:n.*513_*528del
NM_000169.2:c.1125_1140del , LRG_672t1:c.1125_1140del (GLA)	NP_000160.1:p.Val376ProfsTer10
NM_001199973.1:c.408+2502_408+2517del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2502_408+2517del
NM_001199974.1:c.285+6137_285+6152del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6137_285+6152del
XR_938397.1:n.1210_1225del (GLA)
XR_938397.2:n.1231_1246del (GLA)
NM_001199973.2:c.300+2502_300+2517del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2502_300+2517del
NM_001199974.2:c.177+6137_177+6152del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6137_177+6152del
NM_000169.3:c.1125_1140del (GLA) MANE Select	NP_000160.1:p.Val376ProfsTer10
NR_164783.1:n.1204_1219del (GLA)