Canonical Allele Identifier: CA2448297950

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398369_101398373delinsCCTGT , CM000685.2:g.101398369_101398373delinsCCTGT	GRCh38
NC_000023.10:g.100653357_100653361delinsCCTGT , CM000685.1:g.100653357_100653361delinsCCTGT	GRCh37
NC_000023.9:g.100540013_100540017delinsCCTGT	NCBI36
NG_007119.1:g.14591_14595delinsACAGG , LRG_672:g.14591_14595delinsACAGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*442_*445+1delinsACAGG (GLA)
ENST00000674127.2:c.*499_*502+1delinsACAGG (GLA)
ENST00000710365.1:c.1071_1074+1delinsACAGG (GLA)
ENST00000218516.4:c.996_999+1delinsACAGG (GLA)
ENST00000466414.2:n.1132_1135+1delinsACAGG (GLA)
ENST00000468823.2:n.2148_2152delinsACAGG (GLA)
ENST00000479445.2:n.1610_1613+1delinsACAGG (GLA)
ENST00000480513.6:c.*304_*307+1delinsACAGG (GLA)
ENST00000486121.6:c.1041_1044+1delinsACAGG (GLA)
ENST00000649178.1:c.1119_1122+1delinsACAGG (GLA)
ENST00000674127.1:c.1096_1099+1delinsACAGG (GLA)
ENST00000674142.1:n.1300_1303+1delinsACAGG (GLA)
ENST00000674634.2:c.996_1000delinsACAGG (GLA)	ENSP00000502629.2:p.Arg332=
ENST00000675592.1:c.802-274_802-270delinsACAGG (GLA)	ENSP00000502239.1:n.802-274_802-270delins...
ENST00000675799.1:c.*521_*524+1delinsACAGG (GLA)
ENST00000675968.1:n.3867_3870+1delinsACAGG (GLA)
ENST00000676156.1:c.960_963+1delinsACAGG (GLA)
ENST00000676372.1:c.1062_1065+1delinsACAGG (GLA)
ENST00000218516.3:c.996_999+1delinsACAGG (GLA)
ENST00000409170.3:c.300+2912_300+2916delinsCCTGT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2912_300+2916deli...
ENST00000409338.5:c.177+6547_177+6551delinsCCTGT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6547_177+6551deli...
ENST00000466414.1:n.322_325+1delinsACAGG (GLA)
ENST00000493905.6:c.*384_*387+1delinsACAGG (GLA)
NM_000169.2:c.996_999+1delinsACAGG , LRG_672t1:c.996_999+1delinsACAGG (GLA)
NM_001199973.1:c.408+2912_408+2916delinsCCTGT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2912_408+2916delinsC...
NM_001199974.1:c.285+6547_285+6551delinsCCTGT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6547_285+6551delinsC...
XR_938397.1:n.1081_1084+1delinsACAGG (GLA)
XR_938397.2:n.1102_1105+1delinsACAGG (GLA)
NM_001199973.2:c.300+2912_300+2916delinsCCTGT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2912_300+2916delinsC...
NM_001199974.2:c.177+6547_177+6551delinsCCTGT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6547_177+6551delinsC...
NM_000169.3:c.996_999+1delinsACAGG (GLA)
NR_164783.1:n.1075_1078+1delinsACAGG (GLA)