Canonical Allele Identifier: CA2740092249

Gene: GLA RPL36A-HNRNPH2

Linked Data

• ClinVar Variation Id: 3024127
• ClinVar RCV Id: RCV003881711

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398881_101404081del , CM000685.2:g.101398881_101404081del	GRCh38
NC_000023.10:g.100653869_100659069del , CM000685.1:g.100653869_100659069del	GRCh37
NC_000023.9:g.100540525_100545725del	NCBI36
NG_007119.1:g.8890_14090del , LRG_672:g.8890_14090del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.195-89_*158del (GLA)
ENST00000674127.2:c.195-89_*215del (GLA)
ENST00000710365.1:c.270-89_787del (GLA)
ENST00000218516.4:c.195-89_712del (GLA)
ENST00000466414.2:n.114-89_631del (GLA)
ENST00000468823.2:n.256-89_1647del (GLA)
ENST00000479445.2:n.193-89_1109del (GLA)
ENST00000480513.6:c.195-89_*20del (GLA)
ENST00000486121.6:c.125-89_757del (GLA)
ENST00000649178.1:c.318-89_835del (GLA)
ENST00000674127.1:c.123-89_812del (GLA)
ENST00000674142.1:n.282-89_799del (GLA)
ENST00000674634.2:c.195-89_712del (GLA)
ENST00000675592.1:c.195-89_712del (GLA)
ENST00000675799.1:c.195-89_*20del (GLA)
ENST00000675968.1:n.256-89_3366del (GLA)
ENST00000676156.1:c.195-89_676del (GLA)
ENST00000676372.1:c.195-89_712del (GLA)
ENST00000218516.3:c.195-89_712del (GLA)
ENST00000409170.3:c.300+3424_301-7855del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3424_301-7855del
ENST00000409338.5:c.177+7059_178-7855del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+7059_178-7855del
ENST00000480513.5:n.125-89_550del (GLA)
ENST00000493905.6:c.195-89_*100del (GLA)
NM_000169.2:c.195-89_712del , LRG_672t1:c.195-89_712del (GLA)
NM_001199973.1:c.408+3424_409-7855del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3424_409-7855del
NM_001199974.1:c.285+7059_286-7855del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+7059_286-7855del
XR_938397.1:n.223-89_797del (GLA)
XR_938397.2:n.244-89_818del (GLA)
NM_001199973.2:c.300+3424_301-7855del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3424_301-7855del
NM_001199974.2:c.177+7059_178-7855del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+7059_178-7855del
NM_000169.3:c.195-89_712del (GLA)
NR_164783.1:n.217-89_791del (GLA)