Canonical Allele Identifier: CA658684321

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 495690
• ClinVar RCV Id: RCV000586203
• dbSNP Id: rs1555984840
• MyVariant Identifiers: chrX:g.100653031_100653032del (hg19) ; chrX:g.101398043_101398044del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398043_101398044del , CM000685.2:g.101398043_101398044del	GRCh38
NC_000023.10:g.100653031_100653032del , CM000685.1:g.100653031_100653032del	GRCh37
NC_000023.9:g.100539687_100539688del	NCBI36
NG_007119.1:g.14920_14921del , LRG_672:g.14920_14921del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*501_*502del (GLA)	ENSP00000501124.2:n.*501_*502del
ENST00000674127.2:c.*558_*559del (GLA)	ENSP00000501044.2:n.*558_*559del
ENST00000710365.1:c.1130_1131del (GLA)	ENSP00000518234.1:p.Ala377AspfsTer22
ENST00000218516.4:c.1055_1056del (GLA) MANE Select	ENSP00000218516.4:p.Ala352AspfsTer22
ENST00000466414.2:n.1191_1192del (GLA)
ENST00000468823.2:n.2477_2478del (GLA)
ENST00000479445.2:n.1669_1670del (GLA)
ENST00000480513.6:c.*363_*364del (GLA)	ENSP00000497055.1:n.*363_*364del
ENST00000486121.6:c.1100_1101del (GLA)
ENST00000649178.1:c.1178_1179del (GLA)	ENSP00000498186.1:p.Ala393AspfsTer22
ENST00000674127.1:c.1155_1156del (GLA)	ENSP00000501044.1:n.1155_1156del
ENST00000674142.1:n.1359_1360del (GLA)
ENST00000675592.1:c.857_858del (GLA)	ENSP00000502239.1:p.Ala286AspfsTer22
ENST00000675799.1:c.*580_*581del (GLA)	ENSP00000502661.1:n.*580_*581del
ENST00000675968.1:n.3926_3927del (GLA)
ENST00000676156.1:c.1019_1020del (GLA)	ENSP00000501730.1:p.Ala340AspfsTer22
ENST00000676372.1:c.1121_1122del (GLA)	ENSP00000502805.1:n.1121_1122del
ENST00000218516.3:c.1055_1056del (GLA)	ENSP00000218516.3:p.Ala352AspfsTer22
ENST00000409170.3:c.300+2586_300+2587del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2586_300+2587del
ENST00000409338.5:c.177+6221_177+6222del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6221_177+6222del
ENST00000466414.1:n.381_382del (GLA)
ENST00000493905.6:c.*443_*444del (GLA)	ENSP00000476935.1:n.*443_*444del
NM_000169.2:c.1055_1056del , LRG_672t1:c.1055_1056del (GLA)	NP_000160.1:p.Ala352AspfsTer22
NM_001199973.1:c.408+2586_408+2587del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2586_408+2587del
NM_001199974.1:c.285+6221_285+6222del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6221_285+6222del
XR_938397.1:n.1140_1141del (GLA)
XR_938397.2:n.1161_1162del (GLA)
NM_001199973.2:c.300+2586_300+2587del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2586_300+2587del
NM_001199974.2:c.177+6221_177+6222del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6221_177+6222del
NM_000169.3:c.1055_1056del (GLA) MANE Select	NP_000160.1:p.Ala352AspfsTer22
NR_164783.1:n.1134_1135del (GLA)