Canonical Allele Identifier: CA2695235086

Gene: IL2RG

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.71110966del , CM000685.2:g.71110966del	GRCh38
NC_000023.10:g.70330816del , CM000685.1:g.70330816del	GRCh37
NC_000023.9:g.70247541del	NCBI36
NG_009088.1:g.5588del , LRG_150:g.5588del
NG_021141.1:g.823del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000482750.6:c.200del	ENSP00000421262.2:p.Val67AlafsTer4
ENST00000696903.1:n.251del
ENST00000374202.7:c.200del MANE Select	ENSP00000363318.3:p.Val67AlafsTer4
ENST00000642473.1:n.564del
ENST00000644022.1:n.606del
ENST00000644708.1:n.606del
ENST00000644911.1:n.606del
ENST00000645266.1:c.200del	ENSP00000493734.1:p.Val67AlafsTer4
ENST00000645518.1:c.200del	ENSP00000493986.1:p.Val67AlafsTer4
ENST00000646106.1:c.200del	ENSP00000496437.1:p.Val67AlafsTer4
ENST00000646505.1:c.200del	ENSP00000496673.1:p.Val67AlafsTer4
ENST00000647492.1:c.200del	ENSP00000495340.1:p.Val67AlafsTer4
ENST00000276110.6:n.585del
ENST00000374188.7:c.-517del	ENSP00000363303.3:n.-517del
ENST00000374202.6:c.200del	ENSP00000363318.2:p.Val67AlafsTer4
ENST00000456850.6:c.24+459del	ENSP00000388967.2:n.24+459del
ENST00000464642.5:c.68del	ENSP00000425233.1:p.Val23AlafsTer4
ENST00000473378.1:c.137del	ENSP00000423601.1:p.Val46AlafsTer4
ENST00000487883.1:c.164del	ENSP00000423966.1:p.Val55AlafsTer4
ENST00000512747.3:n.267del
NM_000206.2:c.200del , LRG_150t1:c.200del	NP_000197.1:p.Val67AlafsTer4
NM_000206.3:c.200del MANE Select	NP_000197.1:p.Val67AlafsTer4