Canonical Allele Identifier: CA333093046

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101398030_101398043delinsTTCCACGATC , CM000685.2:g.101398030_101398043delinsTTCCACGATC	GRCh38
NC_000023.10:g.100653018_100653031delinsTTCCACGATC , CM000685.1:g.100653018_100653031delinsTTCCACGATC	GRCh37
NC_000023.9:g.100539674_100539687delinsTTCCACGATC	NCBI36
NG_007119.1:g.14921_14934delinsGATCGTGGAA , LRG_672:g.14921_14934delinsGATCGTGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*502_*515delinsGATCGTGGAA (GLA)	ENSP00000501124.2:n.*502_*515delinsGATCGTGGAA
ENST00000674127.2:c.*559_*572delinsGATCGTGGAA (GLA)	ENSP00000501044.2:n.*559_*572delinsGATCGTGGAA
ENST00000710365.1:c.1131_1144delinsGATCGTGGAA (GLA)	ENSP00000518234.1:p.Met378IlefsTer?
ENST00000218516.4:c.1056_1069delinsGATCGTGGAA (GLA) MANE Select	ENSP00000218516.4:p.Met353IlefsTer?
ENST00000466414.2:n.1192_1205delinsGATCGTGGAA (GLA)
ENST00000468823.2:n.2478_2491delinsGATCGTGGAA (GLA)
ENST00000479445.2:n.1670_1683delinsGATCGTGGAA (GLA)
ENST00000480513.6:c.*364_*377delinsGATCGTGGAA (GLA)	ENSP00000497055.1:n.*364_*377delinsGATCGTGGAA
ENST00000486121.6:c.1101_1114delinsGATCGTGGAA (GLA)
ENST00000649178.1:c.1179_1192delinsGATCGTGGAA (GLA)	ENSP00000498186.1:p.Met394IlefsTer?
ENST00000674127.1:c.1156_1169delinsGATCGTGGAA (GLA)	ENSP00000501044.1:n.1156_1169delinsGATCGTGGAA
ENST00000674142.1:n.1360_1373delinsGATCGTGGAA (GLA)
ENST00000675592.1:c.858_871delinsGATCGTGGAA (GLA)	ENSP00000502239.1:p.Met287IlefsTer?
ENST00000675799.1:c.*581_*594delinsGATCGTGGAA (GLA)	ENSP00000502661.1:n.*581_*594delinsGATCGTGGAA
ENST00000675968.1:n.3927_3940delinsGATCGTGGAA (GLA)
ENST00000676156.1:c.1020_1033delinsGATCGTGGAA (GLA)	ENSP00000501730.1:p.Met341IlefsTer?
ENST00000676372.1:c.1122_1135delinsGATCGTGGAA (GLA)	ENSP00000502805.1:n.1122_1135delinsGATCGTGGAA
ENST00000218516.3:c.1056_1069delinsGATCGTGGAA (GLA)	ENSP00000218516.3:p.Met353IlefsTer?
ENST00000409170.3:c.300+2573_300+2586delinsTTCCACGATC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2573_300+2586delinsTTCCACGATC
ENST00000409338.5:c.177+6208_177+6221delinsTTCCACGATC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6208_177+6221delinsTTCCACGATC
ENST00000466414.1:n.382_395delinsGATCGTGGAA (GLA)
ENST00000493905.6:c.*444_*457delinsGATCGTGGAA (GLA)	ENSP00000476935.1:n.*444_*457delinsGATCGTGGAA
NM_000169.2:c.1056_1069delinsGATCGTGGAA , LRG_672t1:c.1056_1069delinsGATCGTGGAA (GLA)	NP_000160.1:p.Met353IlefsTer?
NM_001199973.1:c.408+2573_408+2586delinsTTCCACGATC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2573_408+2586delinsTTCCACGATC
NM_001199974.1:c.285+6208_285+6221delinsTTCCACGATC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6208_285+6221delinsTTCCACGATC
XR_938397.1:n.1141_1154delinsGATCGTGGAA (GLA)
XR_938397.2:n.1162_1175delinsGATCGTGGAA (GLA)
NM_001199973.2:c.300+2573_300+2586delinsTTCCACGATC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2573_300+2586delinsTTCCACGATC
NM_001199974.2:c.177+6208_177+6221delinsTTCCACGATC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6208_177+6221delinsTTCCACGATC
NM_000169.3:c.1056_1069delinsGATCGTGGAA (GLA) MANE Select	NP_000160.1:p.Met353IlefsTer?
NR_164783.1:n.1135_1148delinsGATCGTGGAA (GLA)