Canonical Allele Identifier: CA658797813

Gene: CBL

Linked Data

• ClinVar Variation Id: 543984
• ClinVar RCV Id: RCV000654952
• dbSNP Id: rs1555225106
• MyVariant Identifiers: chr11:g.119077254_119077256dup (hg19) ; chr11:g.119206544_119206546dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206544_119206546dup , CM000673.2:g.119206544_119206546dup	GRCh38
NC_000011.9:g.119077254_119077256dup , CM000673.1:g.119077254_119077256dup	GRCh37
NC_000011.8:g.118582464_118582466dup	NCBI36
NG_016808.1:g.5265_5267dup , LRG_608:g.5265_5267dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.127_129dup	ENSP00000515005.1:p.Leu43_Ser44insLeu
ENST00000264033.6:c.127_129dup MANE Select	ENSP00000264033.3:p.Leu43_Ser44insLeu
ENST00000637974.1:c.121_123dup	ENSP00000490763.1:p.Leu41_Ser42insLeu
ENST00000264033.5:c.127_129dup	ENSP00000264033.3:p.Leu43_Ser44insLeu
ENST00000634586.1:c.127_129dup	ENSP00000489218.1:p.Leu43_Ser44insLeu
ENST00000634840.1:c.127_129dup	ENSP00000489324.1:p.Leu43_Ser44insLeu
NM_005188.3:c.127_129dup , LRG_608t1:c.127_129dup	NP_005179.2:p.Leu43_Ser44insLeu
XM_011543057.1:c.127_129dup	XP_011541359.1:p.Leu43_Ser44insLeu
NM_005188.4:c.127_129dup MANE Select	NP_005179.2:p.Leu43_Ser44insLeu