Canonical Allele Identifier: CA135700

Gene: CBL

Linked Data - Variant Effect Evidence

Linked Data - Sequence & Population

Linked Data - NCBI & NCI

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