Canonical Allele Identifier: CA2838032525
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119206535_119206546dup , CM000673.2:g.119206535_119206546dup GRCh38
NC_000011.9:g.119077245_119077256dup , CM000673.1:g.119077245_119077256dup GRCh37
NC_000011.8:g.118582455_118582466dup NCBI36
NG_016808.1:g.5256_5267dup , LRG_608:g.5256_5267dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.118_129dup ENSP00000515005.1:p.Leu43_Ser44insHisHisHisLeu
ENST00000264033.6:c.118_129dup MANE Select ENSP00000264033.3:p.Leu43_Ser44insHisHisHisLeu
ENST00000637974.1:c.112_123dup ENSP00000490763.1:p.Leu41_Ser42insHisHisHisLeu
ENST00000264033.5:c.118_129dup ENSP00000264033.3:p.Leu43_Ser44insHisHisHisLeu
ENST00000634586.1:c.118_129dup ENSP00000489218.1:p.Leu43_Ser44insHisHisHisLeu
ENST00000634840.1:c.118_129dup ENSP00000489324.1:p.Leu43_Ser44insHisHisHisLeu
NM_005188.3:c.118_129dup , LRG_608t1:c.118_129dup NP_005179.2:p.Leu43_Ser44insHisHisHisLeu
XM_011543057.1:c.118_129dup XP_011541359.1:p.Leu43_Ser44insHisHisHisLeu
NM_005188.4:c.118_129dup MANE Select NP_005179.2:p.Leu43_Ser44insHisHisHisLeu