Canonical Allele Identifier: CA2448298066

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398564_101398570delinsCTAACTG , CM000685.2:g.101398564_101398570delinsCTAACTG	GRCh38
NC_000023.10:g.100653552_100653558delinsCTAACTG , CM000685.1:g.100653552_100653558delinsCTAACTG	GRCh37
NC_000023.9:g.100540208_100540214delinsCTAACTG	NCBI36
NG_007119.1:g.14394_14400delinsCAGTTAG , LRG_672:g.14394_14400delinsCAGTTAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*248-3_*251delinsCAGTTAG (GLA)
ENST00000674127.2:c.*305-3_*308delinsCAGTTAG (GLA)
ENST00000710365.1:c.877-3_880delinsCAGTTAG (GLA)
ENST00000218516.4:c.802-3_805delinsCAGTTAG (GLA)
ENST00000466414.2:n.935_941delinsCAGTTAG (GLA)
ENST00000468823.2:n.1951_1957delinsCAGTTAG (GLA)
ENST00000479445.2:n.1413_1419delinsCAGTTAG (GLA)
ENST00000480513.6:c.*110-3_*113delinsCAGTTAG (GLA)
ENST00000486121.6:c.847-3_850delinsCAGTTAG (GLA)
ENST00000649178.1:c.925-3_928delinsCAGTTAG (GLA)
ENST00000674127.1:c.902-3_905delinsCAGTTAG (GLA)
ENST00000674142.1:n.1103_1109delinsCAGTTAG (GLA)
ENST00000674634.2:c.802-3_805delinsCAGTTAG (GLA)
ENST00000675592.1:c.801+215_801+221delinsCAGTTAG (GLA)	ENSP00000502239.1:n.801+215_801+221delinsCAGTTAG
ENST00000675799.1:c.*324_*330delinsCAGTTAG (GLA)	ENSP00000502661.1:n.*324_*330delinsCAGTTAG
ENST00000675968.1:n.3670_3676delinsCAGTTAG (GLA)
ENST00000676156.1:c.766-3_769delinsCAGTTAG (GLA)
ENST00000676372.1:c.868-3_871delinsCAGTTAG (GLA)
ENST00000218516.3:c.802-3_805delinsCAGTTAG (GLA)
ENST00000409170.3:c.300+3107_300+3113delinsCTAACTG (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+3107_300+3113delinsCTAACTG
ENST00000409338.5:c.177+6742_177+6748delinsCTAACTG (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6742_177+6748delinsCTAACTG
ENST00000466414.1:n.125_131delinsCAGTTAG (GLA)
ENST00000468823.1:n.565_571delinsCAGTTAG (GLA)
ENST00000493905.6:c.*190-3_*193delinsCAGTTAG (GLA)
NM_000169.2:c.802-3_805delinsCAGTTAG , LRG_672t1:c.802-3_805delinsCAGTTAG (GLA)
NM_001199973.1:c.408+3107_408+3113delinsCTAACTG (RPL36A-HNRNPH2)	NP_001186902.1:n.408+3107_408+3113delinsCTAACTG
NM_001199974.1:c.285+6742_285+6748delinsCTAACTG (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6742_285+6748delinsCTAACTG
XR_938397.1:n.887-3_890delinsCAGTTAG (GLA)
XR_938397.2:n.908-3_911delinsCAGTTAG (GLA)
NM_001199973.2:c.300+3107_300+3113delinsCTAACTG (RPL36A-HNRNPH2)	NP_001186902.2:n.300+3107_300+3113delinsCTAACTG
NM_001199974.2:c.177+6742_177+6748delinsCTAACTG (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6742_177+6748delinsCTAACTG
NM_000169.3:c.802-3_805delinsCAGTTAG (GLA)
NR_164783.1:n.881-3_884delinsCAGTTAG (GLA)