Canonical Allele Identifier: CA352550

Gene: GLA RPL36A-HNRNPH2

Linked Data

• dbSNP Id: rs869312321
• MyVariant Identifiers: chrX:g.100656614_100656619del (hg19) ; chrX:g.101401626_101401631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401629_101401634del , CM000685.2:g.101401629_101401634del	GRCh38
NC_000023.10:g.100656617_100656622del , CM000685.1:g.100656617_100656622del	GRCh37
NC_000023.9:g.100543273_100543278del	NCBI36
NG_007119.1:g.11333_11338del , LRG_672:g.11333_11338del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.547+1_547+6del (GLA)
ENST00000674127.2:c.547+1_547+6del (GLA)
ENST00000710365.1:c.622+1_622+6del (GLA)
ENST00000218516.4:c.547+1_547+6del (GLA)
ENST00000466414.2:n.466+1_466+6del (GLA)
ENST00000468823.2:n.609_614del (GLA)
ENST00000479445.2:n.546_551del (GLA)
ENST00000480513.6:c.547+1_547+6del (GLA)
ENST00000486121.6:c.477+1_477+6del (GLA)
ENST00000649178.1:c.670+1_670+6del (GLA)
ENST00000674127.1:c.475+1_475+6del (GLA)
ENST00000674142.1:n.634+1_634+6del (GLA)
ENST00000674634.2:c.547+1_547+6del (GLA)
ENST00000675592.1:c.547+1_547+6del (GLA)
ENST00000675799.1:c.547+1_547+6del (GLA)
ENST00000675968.1:n.609_614del (GLA)
ENST00000676156.1:c.511+37_511+42del (GLA)	ENSP00000501730.1:n.511+37_511+42del
ENST00000676372.1:c.547+1_547+6del (GLA)
ENST00000218516.3:c.547+1_547+6del (GLA)
ENST00000409170.3:c.300+6172_300+6177del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6172_300+6177del
ENST00000409338.5:c.177+9807_177+9812del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9807_177+9812del
ENST00000479445.1:n.532_537del (GLA)
ENST00000480513.5:n.477+1_477+6del (GLA)
ENST00000486121.5:n.477+1_477+6del (GLA)
ENST00000493905.6:c.547+1_547+6del (GLA)
NM_000169.2:c.547+1_547+6del , LRG_672t1:c.547+1_547+6del (GLA)
NM_001199973.1:c.408+6172_408+6177del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6172_408+6177del
NM_001199974.1:c.285+9807_285+9812del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9807_285+9812del
XR_938397.1:n.575+1_575+6del (GLA)
XR_938397.2:n.596+1_596+6del (GLA)
NM_001199973.2:c.300+6172_300+6177del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6172_300+6177del
NM_001199974.2:c.177+9807_177+9812del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9807_177+9812del
NM_000169.3:c.547+1_547+6del (GLA)
NR_164783.1:n.569+1_569+6del (GLA)