Canonical Allele Identifier: CA658656859

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 451478
• ClinVar RCV Id: RCV000522332 ; RCV001175448
• dbSNP Id: rs1555984717
• MyVariant Identifiers: chrX:g.100652802del (hg19) ; chrX:g.101397814del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397814del , CM000685.2:g.101397814del	GRCh38
NC_000023.10:g.100652802del , CM000685.1:g.100652802del	GRCh37
NC_000023.9:g.100539458del	NCBI36
NG_007119.1:g.15150del , LRG_672:g.15150del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000710365.1:c.1360del (GLA)	ENSP00000518234.1:p.Leu454PhefsTer26
ENST00000218516.4:c.1285del (GLA) MANE Select	ENSP00000218516.4:p.Leu429PhefsTer?
ENST00000466414.2:n.1421del (GLA)
ENST00000468823.2:n.2707del (GLA)
ENST00000479445.2:n.1899del (GLA)
ENST00000649178.1:c.1408del (GLA)	ENSP00000498186.1:p.Leu470PhefsTer?
ENST00000674142.1:n.1421+168del (GLA)
ENST00000675592.1:c.1087del (GLA)	ENSP00000502239.1:p.Leu363PhefsTer?
ENST00000675968.1:n.4156del (GLA)
ENST00000676156.1:c.1249del (GLA)	ENSP00000501730.1:p.Leu417PhefsTer?
ENST00000676372.1:c.1351del (GLA)	ENSP00000502805.1:n.1351del
ENST00000218516.3:c.1285del (GLA)	ENSP00000218516.3:p.Leu429PhefsTer?
ENST00000409170.3:c.300+2357del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2357del
ENST00000409338.5:c.177+5992del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+5992del
ENST00000466414.1:n.611del (GLA)
ENST00000493905.6:c.*673del (GLA)	ENSP00000476935.1:n.*673del
NM_000169.2:c.1285del , LRG_672t1:c.1285del (GLA)	NP_000160.1:p.Leu429PhefsTer?
NM_001199973.1:c.408+2357del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2357del
NM_001199974.1:c.285+5992del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+5992del
XR_938397.1:n.1370del (GLA)
XR_938397.2:n.1391del (GLA)
NM_001199973.2:c.300+2357del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2357del
NM_001199974.2:c.177+5992del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+5992del
NM_000169.3:c.1285del (GLA) MANE Select	NP_000160.1:p.Leu429PhefsTer?
NR_164783.1:n.1364del (GLA)