Canonical Allele Identifier: CA1139667727

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10758
• ClinVar RCV Id: RCV000011505

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101403229_101407885del , CM000685.2:g.101403229_101407885del	GRCh38
NC_000023.10:g.100658217_100662873del , CM000685.1:g.100658217_100662873del	GRCh37
NC_000023.9:g.100544873_100549529del	NCBI36
NG_007119.1:g.5079_9735del , LRG_672:g.5079_9735del
NG_016327.1:g.27_4683del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.19_369+582del (GLA)
ENST00000674127.2:c.19_369+582del (GLA)
ENST00000710365.1:c.19_444+582del (GLA)
ENST00000218516.4:c.19_369+582del (GLA)
ENST00000468823.2:n.80_430+582del (GLA)
ENST00000479445.2:n.17_367+582del (GLA)
ENST00000480513.6:c.19_369+582del (GLA)
ENST00000649178.1:c.19_492+582del (GLA)
ENST00000674142.1:n.106_456+582del (GLA)
ENST00000674634.2:c.19_369+582del (GLA)
ENST00000675592.1:c.19_369+582del (GLA)
ENST00000675799.1:c.19_369+582del (GLA)
ENST00000675968.1:n.80_430+582del (GLA)
ENST00000676156.1:c.19_369+582del (GLA)
ENST00000676372.1:c.19_369+582del (GLA)
ENST00000218516.3:c.19_369+582del (GLA)
ENST00000409170.3:c.300+7772_301-4051del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+7772_301-4051del
ENST00000409338.5:c.178-8707_178-4051del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.178-8707_178-4051del
ENST00000479445.1:n.3_353+582del (GLA)
ENST00000493905.6:c.19_369+582del (GLA)
NM_000169.2:c.19_369+582del , LRG_672t1:c.19_369+582del (GLA)
NM_001199973.1:c.408+7772_409-4051del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+7772_409-4051del
NM_001199974.1:c.286-8707_286-4051del (RPL36A-HNRNPH2)	NP_001186903.1:n.286-8707_286-4051del
XR_938397.1:n.47_397+582del (GLA)
XR_938397.2:n.68_418+582del (GLA)
NM_001199973.2:c.300+7772_301-4051del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+7772_301-4051del
NM_001199974.2:c.178-8707_178-4051del (RPL36A-HNRNPH2)	NP_001186903.2:n.178-8707_178-4051del
NM_000169.3:c.19_369+582del (GLA)
NR_164783.1:n.41_391+582del (GLA)