Canonical Allele Identifier: CA2695234543

Gene: IL2RG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71108278del , CM000685.2:g.71108278del	GRCh38
NC_000023.10:g.70328128del , CM000685.1:g.70328128del	GRCh37
NC_000023.9:g.70244853del	NCBI36
NG_009088.1:g.8276del , LRG_150:g.8276del
NG_021141.1:g.3511del

Transcript Alleles

HGVS	Amino-acid change
ENST00000482750.6:c.*43del	ENSP00000421262.2:n.*43del
ENST00000696903.1:n.1226del
ENST00000374202.7:c.923del MANE Select	ENSP00000363318.3:p.Ser308TrpfsTer?
ENST00000642473.1:n.1287del
ENST00000644022.1:n.1189del
ENST00000644708.1:n.1232del
ENST00000644911.1:n.1329del
ENST00000645266.1:c.923del	ENSP00000493734.1:p.Ser308TrpfsTer7
ENST00000645518.1:c.923del	ENSP00000493986.1:p.Ser308CysfsTer6
ENST00000646106.1:c.923del	ENSP00000496437.1:p.Ser308TrpfsTer30
ENST00000646505.1:c.923del	ENSP00000496673.1:p.Ser308CysfsTer?
ENST00000647492.1:c.923del	ENSP00000495340.1:p.Ser308CysfsTer?
ENST00000276110.6:n.1516del
ENST00000374188.7:c.110del	ENSP00000363303.3:p.Ser37TrpfsTer?
ENST00000374202.6:c.923del	ENSP00000363318.2:p.Ser308TrpfsTer?
ENST00000456850.6:c.353del	ENSP00000388967.2:p.Ser118TrpfsTer?
ENST00000482750.5:c.239del
ENST00000512747.3:n.1102del
NM_000206.2:c.923del , LRG_150t1:c.923del	NP_000197.1:p.Ser308TrpfsTer?
NM_000206.3:c.923del MANE Select	NP_000197.1:p.Ser308TrpfsTer?