Canonical Allele Identifier: CA2580100075

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10760
• ClinVar RCV Id: RCV000011507

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397823_101402342del , CM000685.2:g.101397823_101402342del	GRCh38
NC_000023.10:g.100652811_100657330del , CM000685.1:g.100652811_100657330del	GRCh37
NC_000023.9:g.100539467_100543986del	NCBI36
NG_007119.1:g.10625_15144del , LRG_672:g.10625_15144del

Transcript Alleles

HGVS	Amino-acid change
ENST00000674127.2:c.370-530_*782del (GLA)
ENST00000710365.1:c.445-530_1354del (GLA)
ENST00000218516.4:c.370-530_1279del (GLA)
ENST00000466414.2:n.289-530_1415del (GLA)
ENST00000468823.2:n.431-530_2701del (GLA)
ENST00000479445.2:n.368-530_1893del (GLA)
ENST00000649178.1:c.493-530_1402del (GLA)
ENST00000674127.1:c.298-530_1379del (GLA)
ENST00000674142.1:n.457-530_1421+162del (GLA)
ENST00000675592.1:c.370-530_1081del (GLA)
ENST00000675968.1:n.431-530_4150del (GLA)
ENST00000676156.1:c.370-530_1243del (GLA)
ENST00000676372.1:c.370-530_1345del (GLA)
ENST00000218516.3:c.370-530_1279del (GLA)
ENST00000409170.3:c.300+2366_300+6885del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2366_300+6885del
ENST00000409338.5:c.177+6001_178-9594del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6001_178-9594del
ENST00000493905.6:c.370-530_*667del (GLA)
NM_000169.2:c.370-530_1279del , LRG_672t1:c.370-530_1279del (GLA)
NM_001199973.1:c.408+2366_408+6885del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2366_408+6885del
NM_001199974.1:c.285+6001_286-9594del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6001_286-9594del
XR_938397.1:n.398-530_1364del (GLA)
XR_938397.2:n.419-530_1385del (GLA)
NM_001199973.2:c.300+2366_300+6885del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2366_300+6885del
NM_001199974.2:c.177+6001_178-9594del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6001_178-9594del
NM_000169.3:c.370-530_1279del (GLA)
NR_164783.1:n.392-530_1358del (GLA)