Canonical Allele Identifier: CA2448297612

Gene: GLA RPL36A-HNRNPH2

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.101397995_101398009delinsTGCGATGGTATAAGA , CM000685.2:g.101397995_101398009delinsTGCGATGGTATAAGA	GRCh38
NC_000023.10:g.100652983_100652997delinsTGCGATGGTATAAGA , CM000685.1:g.100652983_100652997delinsTGCGATGGTATAAGA	GRCh37
NC_000023.9:g.100539639_100539653delinsTGCGATGGTATAAGA	NCBI36
NG_007119.1:g.14955_14969delinsTCTTATACCATCGCA , LRG_672:g.14955_14969delinsTCTTATACCATCGCA

Transcript Alleles

HGVS	Amino-acid change
ENST00000486121.7:c.*536_*550delinsTCTTATACCATCGCA (GLA)	ENSP00000501124.2:n.*536_*550delinsTCTTATACCATCGCA
ENST00000674127.2:c.*593_*607delinsTCTTATACCATCGCA (GLA)	ENSP00000501044.2:n.*593_*607delinsTCTTATACCATCGCA
ENST00000710365.1:c.1165_1179delinsTCTTATACCATCGCA (GLA)	ENSP00000518234.1:p.Ser389=
ENST00000218516.4:c.1090_1104delinsTCTTATACCATCGCA (GLA) MANE Select	ENSP00000218516.4:p.Ser364=
ENST00000466414.2:n.1226_1240delinsTCTTATACCATCGCA (GLA)
ENST00000468823.2:n.2512_2526delinsTCTTATACCATCGCA (GLA)
ENST00000479445.2:n.1704_1718delinsTCTTATACCATCGCA (GLA)
ENST00000480513.6:c.*398_*412delinsTCTTATACCATCGCA (GLA)	ENSP00000497055.1:n.*398_*412delinsTCTTATACCATCGCA
ENST00000486121.6:c.1135_1149delinsTCTTATACCATCGCA (GLA)
ENST00000649178.1:c.1213_1227delinsTCTTATACCATCGCA (GLA)	ENSP00000498186.1:p.Ser405=
ENST00000674127.1:c.1190_1204delinsTCTTATACCATCGCA (GLA)	ENSP00000501044.1:n.1190_1204delinsTCTTATACCATCGCA
ENST00000674142.1:n.1394_1408delinsTCTTATACCATCGCA (GLA)
ENST00000675592.1:c.892_906delinsTCTTATACCATCGCA (GLA)	ENSP00000502239.1:p.Ser298=
ENST00000675799.1:c.*615_*629delinsTCTTATACCATCGCA (GLA)	ENSP00000502661.1:n.*615_*629delinsTCTTATACCATCGCA
ENST00000675968.1:n.3961_3975delinsTCTTATACCATCGCA (GLA)
ENST00000676156.1:c.1054_1068delinsTCTTATACCATCGCA (GLA)	ENSP00000501730.1:p.Ser352=
ENST00000676372.1:c.1156_1170delinsTCTTATACCATCGCA (GLA)	ENSP00000502805.1:n.1156_1170delinsTCTTATACCATCGCA
ENST00000218516.3:c.1090_1104delinsTCTTATACCATCGCA (GLA)	ENSP00000218516.3:p.Ser364=
ENST00000409170.3:c.300+2538_300+2552delinsTGCGATGGTATAAGA (RPL36A-HNRNPH2)	ENSP00000386655.4:n.300+2538_300+2552delinsTGCGATGGTATAAGA
ENST00000409338.5:c.177+6173_177+6187delinsTGCGATGGTATAAGA (RPL36A-HNRNPH2)	ENSP00000386974.2:n.177+6173_177+6187delinsTGCGATGGTATAAGA
ENST00000466414.1:n.416_430delinsTCTTATACCATCGCA (GLA)
ENST00000493905.6:c.*478_*492delinsTCTTATACCATCGCA (GLA)	ENSP00000476935.1:n.*478_*492delinsTCTTATACCATCGCA
NM_000169.2:c.1090_1104delinsTCTTATACCATCGCA , LRG_672t1:c.1090_1104delinsTCTTATACCATCGCA (GLA)	NP_000160.1:p.Ser364=
NM_001199973.1:c.408+2538_408+2552delinsTGCGATGGTATAAGA (RPL36A-HNRNPH2)	NP_001186902.1:n.408+2538_408+2552delinsTGCGATGGTATAAGA
NM_001199974.1:c.285+6173_285+6187delinsTGCGATGGTATAAGA (RPL36A-HNRNPH2)	NP_001186903.1:n.285+6173_285+6187delinsTGCGATGGTATAAGA
XR_938397.1:n.1175_1189delinsTCTTATACCATCGCA (GLA)
XR_938397.2:n.1196_1210delinsTCTTATACCATCGCA (GLA)
NM_001199973.2:c.300+2538_300+2552delinsTGCGATGGTATAAGA (RPL36A-HNRNPH2)	NP_001186902.2:n.300+2538_300+2552delinsTGCGATGGTATAAGA
NM_001199974.2:c.177+6173_177+6187delinsTGCGATGGTATAAGA (RPL36A-HNRNPH2)	NP_001186903.2:n.177+6173_177+6187delinsTGCGATGGTATAAGA
NM_000169.3:c.1090_1104delinsTCTTATACCATCGCA (GLA) MANE Select	NP_000160.1:p.Ser364=
NR_164783.1:n.1169_1183delinsTCTTATACCATCGCA (GLA)