Canonical Allele Identifier: CA352589

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10772
• ClinVar RCV Id: RCV000011519 ; RCV001781221
• dbSNP Id: rs869312249
• gnomAD v4: X-101397820-CTT-C
• MyVariant Identifiers: chrX:g.100652809_100652810del (hg19) ; chrX:g.101397821_101397822del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397823_101397824del , CM000685.2:g.101397823_101397824del	GRCh38
NC_000023.10:g.100652811_100652812del , CM000685.1:g.100652811_100652812del	GRCh37
NC_000023.9:g.100539467_100539468del	NCBI36
NG_007119.1:g.15142_15143del , LRG_672:g.15142_15143del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000674127.2:c.*780_*781del (GLA)	ENSP00000501044.2:n.*780_*781del
ENST00000710365.1:c.1352_1353del (GLA)	ENSP00000518234.1:p.Lys451ArgfsTer24
ENST00000218516.4:c.1277_1278del (GLA) MANE Select	ENSP00000218516.4:p.Lys426ArgfsTer?
ENST00000466414.2:n.1413_1414del (GLA)
ENST00000468823.2:n.2699_2700del (GLA)
ENST00000479445.2:n.1891_1892del (GLA)
ENST00000649178.1:c.1400_1401del (GLA)	ENSP00000498186.1:p.Lys467ArgfsTer?
ENST00000674127.1:c.1377_1378del (GLA)	ENSP00000501044.1:n.1377_1378del
ENST00000674142.1:n.1421+160_1421+161del (GLA)
ENST00000675592.1:c.1079_1080del (GLA)	ENSP00000502239.1:p.Lys360ArgfsTer?
ENST00000675968.1:n.4148_4149del (GLA)
ENST00000676156.1:c.1241_1242del (GLA)	ENSP00000501730.1:p.Lys414ArgfsTer?
ENST00000676372.1:c.1343_1344del (GLA)	ENSP00000502805.1:n.1343_1344del
ENST00000218516.3:c.1277_1278del (GLA)	ENSP00000218516.3:p.Lys426ArgfsTer?
ENST00000409170.3:c.300+2366_300+2367del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2366_300+2367del
ENST00000409338.5:c.177+6001_177+6002del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6001_177+6002del
ENST00000466414.1:n.603_604del (GLA)
ENST00000493905.6:c.*665_*666del (GLA)	ENSP00000476935.1:n.*665_*666del
NM_000169.2:c.1277_1278del , LRG_672t1:c.1277_1278del (GLA)	NP_000160.1:p.Lys426ArgfsTer?
NM_001199973.1:c.408+2366_408+2367del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2366_408+2367del
NM_001199974.1:c.285+6001_285+6002del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6001_285+6002del
XR_938397.1:n.1362_1363del (GLA)
XR_938397.2:n.1383_1384del (GLA)
NM_001199973.2:c.300+2366_300+2367del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2366_300+2367del
NM_001199974.2:c.177+6001_177+6002del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6001_177+6002del
NM_000169.3:c.1277_1278del (GLA) MANE Select	NP_000160.1:p.Lys426ArgfsTer?
NR_164783.1:n.1356_1357del (GLA)