Canonical Allele Identifier: CA2448297601

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397982_101397983delinsCC , CM000685.2:g.101397982_101397983delinsCC	GRCh38
NC_000023.10:g.100652970_100652971delinsCC , CM000685.1:g.100652970_100652971delinsCC	GRCh37
NC_000023.9:g.100539626_100539627delinsCC	NCBI36
NG_007119.1:g.14981_14982delinsGG , LRG_672:g.14981_14982delinsGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*562_*563delinsGG (GLA)	ENSP00000501124.2:n.*562_*563delinsGG
ENST00000674127.2:c.*619_*620delinsGG (GLA)	ENSP00000501044.2:n.*619_*620delinsGG
ENST00000710365.1:c.1191_1192delinsGG (GLA)	ENSP00000518234.1:p.Leu397=
ENST00000218516.4:c.1116_1117delinsGG (GLA) MANE Select	ENSP00000218516.4:p.Leu372=
ENST00000466414.2:n.1252_1253delinsGG (GLA)
ENST00000468823.2:n.2538_2539delinsGG (GLA)
ENST00000479445.2:n.1730_1731delinsGG (GLA)
ENST00000480513.6:c.*424_*425delinsGG (GLA)	ENSP00000497055.1:n.*424_*425delinsGG
ENST00000486121.6:c.1161_1162delinsGG (GLA)
ENST00000649178.1:c.1239_1240delinsGG (GLA)	ENSP00000498186.1:p.Leu413=
ENST00000674127.1:c.1216_1217delinsGG (GLA)	ENSP00000501044.1:n.1216_1217delinsGG
ENST00000674142.1:n.1420_1421delinsGG (GLA)
ENST00000675592.1:c.918_919delinsGG (GLA)	ENSP00000502239.1:p.Leu306=
ENST00000675799.1:c.*641_*642delinsGG (GLA)	ENSP00000502661.1:n.*641_*642delinsGG
ENST00000675968.1:n.3987_3988delinsGG (GLA)
ENST00000676156.1:c.1080_1081delinsGG (GLA)	ENSP00000501730.1:p.Leu360=
ENST00000676372.1:c.1182_1183delinsGG (GLA)	ENSP00000502805.1:n.1182_1183delinsGG
ENST00000218516.3:c.1116_1117delinsGG (GLA)	ENSP00000218516.3:p.Leu372=
ENST00000409170.3:c.300+2525_300+2526delinsCC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2525_300+2526delinsCC
ENST00000409338.5:c.177+6160_177+6161delinsCC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6160_177+6161delinsCC
ENST00000466414.1:n.442_443delinsGG (GLA)
ENST00000493905.6:c.*504_*505delinsGG (GLA)	ENSP00000476935.1:n.*504_*505delinsGG
NM_000169.2:c.1116_1117delinsGG , LRG_672t1:c.1116_1117delinsGG (GLA)	NP_000160.1:p.Leu372=
NM_001199973.1:c.408+2525_408+2526delinsCC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2525_408+2526delinsCC
NM_001199974.1:c.285+6160_285+6161delinsCC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6160_285+6161delinsCC
XR_938397.1:n.1201_1202delinsGG (GLA)
XR_938397.2:n.1222_1223delinsGG (GLA)
NM_001199973.2:c.300+2525_300+2526delinsCC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2525_300+2526delinsCC
NM_001199974.2:c.177+6160_177+6161delinsCC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6160_177+6161delinsCC
NM_000169.3:c.1116_1117delinsGG (GLA) MANE Select	NP_000160.1:p.Leu372=
NR_164783.1:n.1195_1196delinsGG (GLA)