Canonical Allele Identifier: CA135700

Gene: CBL

Linked Data

• ClinVar Variation Id: 40400
• ClinVar RCV Id: RCV000038350 ; RCV000278774 ; RCV000514229 ; RCV001080766 ; RCV001813226 ; RCV002408491 ; RCV002490443 ; RCV003924883
• dbSNP Id: rs373212940
• ExAC: 11:119077232 G / GCAC
• gnomAD v2: 11-119077232-G-GCAC
• gnomAD v3: 11-119206522-G-GCAC
• gnomAD v4: 11-119206522-G-GCAC
• MyVariant Identifiers: chr11:g.119077252_119077254dup (hg19) ; chr11:g.119077252_119077254dupACC (hg19) ; chr11:g.119077244_119077245insCAC (hg19) ; chr11:g.119077235_119077236insCAC (hg19) ; chr11:g.119077232_119077233insCAC (hg19) ; chr11:g.119206542_119206544dupACC (hg38) ; chr11:g.119206525_119206526insCAC (hg38) ; chr11:g.119206522_119206523insCAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119206542_119206544dup , CM000673.2:g.119206542_119206544dup	GRCh38
NC_000011.9:g.119077252_119077254dup , CM000673.1:g.119077252_119077254dup	GRCh37
NC_000011.8:g.118582462_118582464dup	NCBI36
NG_016808.1:g.5263_5265dup , LRG_608:g.5263_5265dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000700472.1:c.125_127dup	ENSP00000515005.1:p.His42_Leu43insHis
ENST00000264033.6:c.125_127dup MANE Select	ENSP00000264033.3:p.His42_Leu43insHis
ENST00000637974.1:c.119_121dup	ENSP00000490763.1:p.His40_Leu41insHis
ENST00000264033.5:c.125_127dup	ENSP00000264033.3:p.His42_Leu43insHis
ENST00000634586.1:c.125_127dup	ENSP00000489218.1:p.His42_Leu43insHis
ENST00000634840.1:c.125_127dup	ENSP00000489324.1:p.His42_Leu43insHis
NM_005188.3:c.125_127dup , LRG_608t1:c.125_127dup	NP_005179.2:p.His42_Leu43insHis
XM_011543057.1:c.125_127dup	XP_011541359.1:p.His42_Leu43insHis
NM_005188.4:c.125_127dup MANE Select	NP_005179.2:p.His42_Leu43insHis