Canonical Allele Identifier: CA2448297582

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397973_101397977delinsCTCCT , CM000685.2:g.101397973_101397977delinsCTCCT	GRCh38
NC_000023.10:g.100652961_100652965delinsCTCCT , CM000685.1:g.100652961_100652965delinsCTCCT	GRCh37
NC_000023.9:g.100539617_100539621delinsCTCCT	NCBI36
NG_007119.1:g.14987_14991delinsAGGAG , LRG_672:g.14987_14991delinsAGGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*568_*572delinsAGGAG (GLA)	ENSP00000501124.2:n.*568_*572delinsAGGAG
ENST00000674127.2:c.*625_*629delinsAGGAG (GLA)	ENSP00000501044.2:n.*625_*629delinsAGGAG
ENST00000710365.1:c.1197_1201delinsAGGAG (GLA)	ENSP00000518234.1:p.Lys399=
ENST00000218516.4:c.1122_1126delinsAGGAG (GLA) MANE Select	ENSP00000218516.4:p.Lys374=
ENST00000466414.2:n.1258_1262delinsAGGAG (GLA)
ENST00000468823.2:n.2544_2548delinsAGGAG (GLA)
ENST00000479445.2:n.1736_1740delinsAGGAG (GLA)
ENST00000480513.6:c.*430_*434delinsAGGAG (GLA)	ENSP00000497055.1:n.*430_*434delinsAGGAG
ENST00000486121.6:c.1167_1171delinsAGGAG (GLA)
ENST00000649178.1:c.1245_1249delinsAGGAG (GLA)	ENSP00000498186.1:p.Lys415=
ENST00000674127.1:c.1222_1226delinsAGGAG (GLA)	ENSP00000501044.1:n.1222_1226delinsAGGAG
ENST00000674142.1:n.1421+5_1421+9delinsAGGAG (GLA)
ENST00000675592.1:c.924_928delinsAGGAG (GLA)	ENSP00000502239.1:p.Lys308=
ENST00000675799.1:c.*647_*651delinsAGGAG (GLA)	ENSP00000502661.1:n.*647_*651delinsAGGAG
ENST00000675968.1:n.3993_3997delinsAGGAG (GLA)
ENST00000676156.1:c.1086_1090delinsAGGAG (GLA)	ENSP00000501730.1:p.Lys362=
ENST00000676372.1:c.1188_1192delinsAGGAG (GLA)	ENSP00000502805.1:n.1188_1192delinsAGGAG
ENST00000218516.3:c.1122_1126delinsAGGAG (GLA)	ENSP00000218516.3:p.Lys374=
ENST00000409170.3:c.300+2516_300+2520delinsCTCCT (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2516_300+2520delinsCTCCT
ENST00000409338.5:c.177+6151_177+6155delinsCTCCT (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6151_177+6155delinsCTCCT
ENST00000466414.1:n.448_452delinsAGGAG (GLA)
ENST00000493905.6:c.*510_*514delinsAGGAG (GLA)	ENSP00000476935.1:n.*510_*514delinsAGGAG
NM_000169.2:c.1122_1126delinsAGGAG , LRG_672t1:c.1122_1126delinsAGGAG (GLA)	NP_000160.1:p.Lys374=
NM_001199973.1:c.408+2516_408+2520delinsCTCCT (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2516_408+2520delinsCTCCT
NM_001199974.1:c.285+6151_285+6155delinsCTCCT (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6151_285+6155delinsCTCCT
XR_938397.1:n.1207_1211delinsAGGAG (GLA)
XR_938397.2:n.1228_1232delinsAGGAG (GLA)
NM_001199973.2:c.300+2516_300+2520delinsCTCCT (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2516_300+2520delinsCTCCT
NM_001199974.2:c.177+6151_177+6155delinsCTCCT (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6151_177+6155delinsCTCCT
NM_000169.3:c.1122_1126delinsAGGAG (GLA) MANE Select	NP_000160.1:p.Lys374=
NR_164783.1:n.1201_1205delinsAGGAG (GLA)