Canonical Allele Identifier: CA2448297974

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398405_101398406delinsCC , CM000685.2:g.101398405_101398406delinsCC	GRCh38
NC_000023.10:g.100653393_100653394delinsCC , CM000685.1:g.100653393_100653394delinsCC	GRCh37
NC_000023.9:g.100540049_100540050delinsCC	NCBI36
NG_007119.1:g.14558_14559delinsGG , LRG_672:g.14558_14559delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*409_*410delinsGG (GLA)	ENSP00000501124.2:n.*409_*410delinsGG
ENST00000674127.2:c.*466_*467delinsGG (GLA)	ENSP00000501044.2:n.*466_*467delinsGG
ENST00000710365.1:c.1038_1039delinsGG (GLA)	ENSP00000518234.1:p.Gln346=
ENST00000218516.4:c.963_964delinsGG (GLA) MANE Select	ENSP00000218516.4:p.Gln321=
ENST00000466414.2:n.1099_1100delinsGG (GLA)
ENST00000468823.2:n.2115_2116delinsGG (GLA)
ENST00000479445.2:n.1577_1578delinsGG (GLA)
ENST00000480513.6:c.*271_*272delinsGG (GLA)	ENSP00000497055.1:n.*271_*272delinsGG
ENST00000486121.6:c.1008_1009delinsGG (GLA)
ENST00000649178.1:c.1086_1087delinsGG (GLA)	ENSP00000498186.1:p.Gln362=
ENST00000674127.1:c.1063_1064delinsGG (GLA)	ENSP00000501044.1:n.1063_1064delinsGG
ENST00000674142.1:n.1267_1268delinsGG (GLA)
ENST00000674634.2:c.963_964delinsGG (GLA)	ENSP00000502629.2:p.Gln321=
ENST00000675592.1:c.802-307_802-306delinsGG (GLA)	ENSP00000502239.1:n.802-307_802-306delinsGG
ENST00000675799.1:c.*488_*489delinsGG (GLA)	ENSP00000502661.1:n.*488_*489delinsGG
ENST00000675968.1:n.3834_3835delinsGG (GLA)
ENST00000676156.1:c.927_928delinsGG (GLA)	ENSP00000501730.1:p.Gln309=
ENST00000676372.1:c.1029_1030delinsGG (GLA)	ENSP00000502805.1:n.1029_1030delinsGG
ENST00000218516.3:c.963_964delinsGG (GLA)	ENSP00000218516.3:p.Gln321=
ENST00000409170.3:c.300+2948_300+2949delinsCC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2948_300+2949delinsCC
ENST00000409338.5:c.177+6583_177+6584delinsCC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6583_177+6584delinsCC
ENST00000466414.1:n.289_290delinsGG (GLA)
ENST00000493905.6:c.*351_*352delinsGG (GLA)	ENSP00000476935.1:n.*351_*352delinsGG
NM_000169.2:c.963_964delinsGG , LRG_672t1:c.963_964delinsGG (GLA)	NP_000160.1:p.Gln321=
NM_001199973.1:c.408+2948_408+2949delinsCC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2948_408+2949delinsCC
NM_001199974.1:c.285+6583_285+6584delinsCC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6583_285+6584delinsCC
XR_938397.1:n.1048_1049delinsGG (GLA)
XR_938397.2:n.1069_1070delinsGG (GLA)
NM_001199973.2:c.300+2948_300+2949delinsCC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2948_300+2949delinsCC
NM_001199974.2:c.177+6583_177+6584delinsCC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6583_177+6584delinsCC
NM_000169.3:c.963_964delinsGG (GLA) MANE Select	NP_000160.1:p.Gln321=
NR_164783.1:n.1042_1043delinsGG (GLA)