Canonical Allele Identifier: CA2695234984

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101401805_101401812del , CM000685.2:g.101401805_101401812del	GRCh38
NC_000023.10:g.100656793_100656800del , CM000685.1:g.100656793_100656800del	GRCh37
NC_000023.9:g.100543449_100543456del	NCBI36
NG_007119.1:g.11155_11162del , LRG_672:g.11155_11162del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.370_377del (GLA)
ENST00000674127.2:c.370_377del (GLA)
ENST00000710365.1:c.445_452del (GLA)
ENST00000218516.4:c.370_377del (GLA)
ENST00000466414.2:n.289_296del (GLA)
ENST00000468823.2:n.431_438del (GLA)
ENST00000479445.2:n.368_375del (GLA)
ENST00000480513.6:c.370_377del (GLA)
ENST00000486121.6:c.300_307del (GLA)
ENST00000649178.1:c.493_500del (GLA)
ENST00000674127.1:c.298_305del (GLA)
ENST00000674142.1:n.457_464del (GLA)
ENST00000674634.2:c.370_377del (GLA)
ENST00000675592.1:c.370_377del (GLA)
ENST00000675799.1:c.370_377del (GLA)
ENST00000675968.1:n.431_438del (GLA)
ENST00000676156.1:c.370_377del (GLA)
ENST00000676372.1:c.370_377del (GLA)
ENST00000218516.3:c.370_377del (GLA)
ENST00000409170.3:c.300+6348_300+6355del (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+6348_300+6355del
ENST00000409338.5:c.177+9983_177+9990del (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+9983_177+9990del
ENST00000479445.1:n.354_361del (GLA)
ENST00000480513.5:n.300_307del (GLA)
ENST00000486121.5:n.300_307del (GLA)
ENST00000493905.6:c.370_377del (GLA)
NM_000169.2:c.370_377del , LRG_672t1:c.370_377del (GLA)
NM_001199973.1:c.408+6348_408+6355del (RPL36A-HNRNPH2)	NP_001186902.1:n.408+6348_408+6355del
NM_001199974.1:c.285+9983_285+9990del (RPL36A-HNRNPH2)	NP_001186903.1:n.285+9983_285+9990del
XR_938397.1:n.398_405del (GLA)
XR_938397.2:n.419_426del (GLA)
NM_001199973.2:c.300+6348_300+6355del (RPL36A-HNRNPH2)	NP_001186902.2:n.300+6348_300+6355del
NM_001199974.2:c.177+9983_177+9990del (RPL36A-HNRNPH2)	NP_001186903.2:n.177+9983_177+9990del
NM_000169.3:c.370_377del (GLA)
NR_164783.1:n.392_399del (GLA)