Canonical Allele Identifier: CA2575031928
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278335_119278337dup , CM000673.2:g.119278335_119278337dup GRCh38
NC_000011.9:g.119149045_119149047dup , CM000673.1:g.119149045_119149047dup GRCh37
NC_000011.8:g.118654255_118654257dup NCBI36
NG_016808.1:g.77056_77058dup , LRG_608:g.77056_77058dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*679+38_*679+40dup ENSP00000515005.1:n.*679+38_*679+40dup
ENST00000264033.6:c.1227+38_1227+40dup MANE Select ENSP00000264033.3:n.1227+38_1227+40dup
ENST00000637974.1:c.1221+38_1221+40dup ENSP00000490763.1:n.1221+38_1221+40dup
ENST00000264033.5:c.1227+38_1227+40dup ENSP00000264033.3:n.1227+38_1227+40dup
ENST00000634586.1:c.1227+38_1227+40dup ENSP00000489218.1:n.1227+38_1227+40dup
ENST00000634840.1:c.1227+38_1227+40dup ENSP00000489324.1:n.1227+38_1227+40dup
NM_005188.3:c.1227+38_1227+40dup , LRG_608t1:c.1227+38_1227+40dup NP_005179.2:n.1227+38_1227+40dup
XM_011543057.1:c.1227+38_1227+40dup XP_011541359.1:n.1227+38_1227+40dup
NM_005188.4:c.1227+38_1227+40dup MANE Select NP_005179.2:n.1227+38_1227+40dup