Canonical Allele Identifier: CA333093023

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397996_101398009delinsTTCCACGATC , CM000685.2:g.101397996_101398009delinsTTCCACGATC	GRCh38
NC_000023.10:g.100652984_100652997delinsTTCCACGATC , CM000685.1:g.100652984_100652997delinsTTCCACGATC	GRCh37
NC_000023.9:g.100539640_100539653delinsTTCCACGATC	NCBI36
NG_007119.1:g.14955_14968delinsGATCGTGGAA , LRG_672:g.14955_14968delinsGATCGTGGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000486121.7:c.*536_*549delinsGATCGTGGAA (GLA)	ENSP00000501124.2:n.*536_*549delinsGATCGTGGAA
ENST00000674127.2:c.*593_*606delinsGATCGTGGAA (GLA)	ENSP00000501044.2:n.*593_*606delinsGATCGTGGAA
ENST00000710365.1:c.1165_1178delinsGATCGTGGAA (GLA)	ENSP00000518234.1:p.Ser389AspfsTer26
ENST00000218516.4:c.1090_1103delinsGATCGTGGAA (GLA) MANE Select	ENSP00000218516.4:p.Ser364AspfsTer26
ENST00000466414.2:n.1226_1239delinsGATCGTGGAA (GLA)
ENST00000468823.2:n.2512_2525delinsGATCGTGGAA (GLA)
ENST00000479445.2:n.1704_1717delinsGATCGTGGAA (GLA)
ENST00000480513.6:c.*398_*411delinsGATCGTGGAA (GLA)	ENSP00000497055.1:n.*398_*411delinsGATCGTGGAA
ENST00000486121.6:c.1135_1148delinsGATCGTGGAA (GLA)
ENST00000649178.1:c.1213_1226delinsGATCGTGGAA (GLA)	ENSP00000498186.1:p.Ser405AspfsTer26
ENST00000674127.1:c.1190_1203delinsGATCGTGGAA (GLA)	ENSP00000501044.1:n.1190_1203delinsGATCGTGGAA
ENST00000674142.1:n.1394_1407delinsGATCGTGGAA (GLA)
ENST00000675592.1:c.892_905delinsGATCGTGGAA (GLA)	ENSP00000502239.1:p.Ser298AspfsTer26
ENST00000675799.1:c.*615_*628delinsGATCGTGGAA (GLA)	ENSP00000502661.1:n.*615_*628delinsGATCGTGGAA
ENST00000675968.1:n.3961_3974delinsGATCGTGGAA (GLA)
ENST00000676156.1:c.1054_1067delinsGATCGTGGAA (GLA)	ENSP00000501730.1:p.Ser352AspfsTer26
ENST00000676372.1:c.1156_1169delinsGATCGTGGAA (GLA)	ENSP00000502805.1:n.1156_1169delinsGATCGTGGAA
ENST00000218516.3:c.1090_1103delinsGATCGTGGAA (GLA)	ENSP00000218516.3:p.Ser364AspfsTer26
ENST00000409170.3:c.300+2539_300+2552delinsTTCCACGATC (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2539_300+2552delinsTTCCACGATC
ENST00000409338.5:c.177+6174_177+6187delinsTTCCACGATC (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6174_177+6187delinsTTCCACGATC
ENST00000466414.1:n.416_429delinsGATCGTGGAA (GLA)
ENST00000493905.6:c.*478_*491delinsGATCGTGGAA (GLA)	ENSP00000476935.1:n.*478_*491delinsGATCGTGGAA
NM_000169.2:c.1090_1103delinsGATCGTGGAA , LRG_672t1:c.1090_1103delinsGATCGTGGAA (GLA)	NP_000160.1:p.Ser364AspfsTer26
NM_001199973.1:c.408+2539_408+2552delinsTTCCACGATC (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2539_408+2552delinsTTCCACGATC
NM_001199974.1:c.285+6174_285+6187delinsTTCCACGATC (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6174_285+6187delinsTTCCACGATC
XR_938397.1:n.1175_1188delinsGATCGTGGAA (GLA)
XR_938397.2:n.1196_1209delinsGATCGTGGAA (GLA)
NM_001199973.2:c.300+2539_300+2552delinsTTCCACGATC (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2539_300+2552delinsTTCCACGATC
NM_001199974.2:c.177+6174_177+6187delinsTTCCACGATC (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6174_177+6187delinsTTCCACGATC
NM_000169.3:c.1090_1103delinsGATCGTGGAA (GLA) MANE Select	NP_000160.1:p.Ser364AspfsTer26
NR_164783.1:n.1169_1182delinsGATCGTGGAA (GLA)