Canonical Allele Identifier: CA2695235046

Gene: IL2RG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71109387_71109389delinsATAATCCA , CM000685.2:g.71109387_71109389delinsATAATCCA	GRCh38
NC_000023.10:g.70329237_70329239delinsATAATCCA , CM000685.1:g.70329237_70329239delinsATAATCCA	GRCh37
NC_000023.9:g.70245962_70245964delinsATAATCCA	NCBI36
NG_009088.1:g.7165_7167delinsTGGATTAT , LRG_150:g.7165_7167delinsTGGATTAT
NG_021141.1:g.2400_2402delinsTGGATTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.596_598delinsTGGATTAT	ENSP00000421262.2:p.Glu199ValfsTer?
ENST00000696903.1:n.647_649delinsTGGATTAT
ENST00000374202.7:c.596_598delinsTGGATTAT MANE Select	ENSP00000363318.3:p.Glu199ValfsTer?
ENST00000642473.1:n.960_962delinsTGGATTAT
ENST00000644022.1:n.862_864delinsTGGATTAT
ENST00000644708.1:n.1002_1004delinsTGGATTAT
ENST00000644911.1:n.1002_1004delinsTGGATTAT
ENST00000645266.1:c.596_598delinsTGGATTAT	ENSP00000493734.1:p.Glu199ValfsTer?
ENST00000645518.1:c.596_598delinsTGGATTAT	ENSP00000493986.1:p.Glu199ValfsTer?
ENST00000646106.1:c.596_598delinsTGGATTAT	ENSP00000496437.1:p.Glu199ValfsTer?
ENST00000646505.1:c.596_598delinsTGGATTAT	ENSP00000496673.1:p.Glu199ValfsTer?
ENST00000647492.1:c.596_598delinsTGGATTAT	ENSP00000495340.1:p.Glu199ValfsTer?
ENST00000276110.6:n.1189_1191delinsTGGATTAT
ENST00000374188.7:c.-121_-119delinsTGGATTAT	ENSP00000363303.3:n.-121_-119delinsTGGATTAT
ENST00000374202.6:c.596_598delinsTGGATTAT	ENSP00000363318.2:p.Glu199ValfsTer?
ENST00000456850.6:c.26_28delinsTGGATTAT	ENSP00000388967.2:p.Glu9ValfsTer?
ENST00000464642.5:c.464_466delinsTGGATTAT	ENSP00000425233.1:p.Glu155ValfsTer?
ENST00000482750.5:c.9_11delinsTGGATTAT
ENST00000512747.3:n.523_525delinsTGGATTAT
NM_000206.2:c.596_598delinsTGGATTAT , LRG_150t1:c.596_598delinsTGGATTAT	NP_000197.1:p.Glu199ValfsTer?
NM_000206.3:c.596_598delinsTGGATTAT MANE Select	NP_000197.1:p.Glu199ValfsTer?