Canonical Allele Identifier: CA1139667722

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 10759
• ClinVar RCV Id: RCV000011506

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101399333_101402530del , CM000685.2:g.101399333_101402530del	GRCh38
NC_000023.10:g.100654321_100657518del , CM000685.1:g.100654321_100657518del	GRCh37
NC_000023.9:g.100540977_100544174del	NCBI36
NG_007119.1:g.10472_13669del , LRG_672:g.10472_13669del

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.370-683_*86-349del (GLA)
ENST00000674127.2:c.370-683_*143-349del (GLA)
ENST00000710365.1:c.445-683_715-349del (GLA)
ENST00000218516.4:c.370-683_640-349del (GLA)
ENST00000466414.2:n.289-683_559-349del (GLA)
ENST00000468823.2:n.431-683_1575-349del (GLA)
ENST00000479445.2:n.368-683_1037-349del (GLA)
ENST00000480513.6:c.370-683_548-349del (GLA)
ENST00000486121.6:c.300-683_685-349del (GLA)
ENST00000649178.1:c.493-683_763-349del (GLA)
ENST00000674127.1:c.298-683_740-349del (GLA)
ENST00000674142.1:n.457-683_727-349del (GLA)
ENST00000674634.2:c.370-683_640-349del (GLA)
ENST00000675592.1:c.370-683_640-349del (GLA)
ENST00000675799.1:c.370-683_548-349del (GLA)
ENST00000675968.1:n.431-683_2945del (GLA)
ENST00000676156.1:c.370-683_604-349del (GLA)
ENST00000676372.1:c.370-683_640-349del (GLA)
ENST00000218516.3:c.370-683_640-349del (GLA)
ENST00000409170.3:c.300+3876_300+7073del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3876_300+7073del
ENST00000409338.5:c.177+7511_178-9406del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7511_178-9406del
ENST00000480513.5:n.300-683_478-349del (GLA)
ENST00000486121.5:n.300-683_685-349del (GLA)
ENST00000493905.6:c.370-683_*28-349del (GLA)
NM_000169.2:c.370-683_640-349del , LRG_672t1:c.370-683_640-349del (GLA)
NM_001199973.1:c.408+3876_408+7073del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3876_408+7073del
NM_001199974.1:c.285+7511_286-9406del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7511_286-9406del
XR_938397.1:n.398-683_725-349del (GLA)
XR_938397.2:n.419-683_746-349del (GLA)
NM_001199973.2:c.300+3876_300+7073del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3876_300+7073del
NM_001199974.2:c.177+7511_178-9406del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7511_178-9406del
NM_000169.3:c.370-683_640-349del (GLA)
NR_164783.1:n.392-683_719-349del (GLA)