Canonical Allele Identifier: CA2003906223

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278454_119278457delinsTTAA , CM000673.2:g.119278454_119278457delinsTTAA	GRCh38
NC_000011.9:g.119149164_119149167delinsTTAA , CM000673.1:g.119149164_119149167delinsTTAA	GRCh37
NC_000011.8:g.118654374_118654377delinsTTAA	NCBI36
NG_016808.1:g.77175_77178delinsTTAA , LRG_608:g.77175_77178delinsTTAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*680-56_*680-53delinsTTAA	ENSP00000515005.1:n.*680-56_*680-53delinsTTAA
ENST00000264033.6:c.1228-56_1228-53delinsTTAA MANE Select	ENSP00000264033.3:n.1228-56_1228-53delinsTTAA
ENST00000637974.1:c.1222-56_1222-53delinsTTAA	ENSP00000490763.1:n.1222-56_1222-53delinsTTAA
ENST00000264033.5:c.1228-56_1228-53delinsTTAA	ENSP00000264033.3:n.1228-56_1228-53delinsTTAA
ENST00000634586.1:c.1228-56_1228-53delinsTTAA	ENSP00000489218.1:n.1228-56_1228-53delinsTTAA
ENST00000634840.1:c.1228-56_1228-53delinsTTAA	ENSP00000489324.1:n.1228-56_1228-53delinsTTAA
NM_005188.3:c.1228-56_1228-53delinsTTAA , LRG_608t1:c.1228-56_1228-53delinsTTAA	NP_005179.2:n.1228-56_1228-53delinsTTAA
XM_011543057.1:c.1228-56_1228-53delinsTTAA	XP_011541359.1:n.1228-56_1228-53delinsTTAA
NM_005188.4:c.1228-56_1228-53delinsTTAA MANE Select	NP_005179.2:n.1228-56_1228-53delinsTTAA