Canonical Allele Identifier: CA2616387436

Gene: CBL

Linked Data

• gnomAD v4: 11-119278470-T-TTTCAGATGCATCTGTTACTATCTTTTGCTTC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278474_119278504dup , CM000673.2:g.119278474_119278504dup	GRCh38
NC_000011.9:g.119149184_119149214dup , CM000673.1:g.119149184_119149214dup	GRCh37
NC_000011.8:g.118654394_118654424dup	NCBI36
NG_016808.1:g.77195_77225dup , LRG_608:g.77195_77225dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*680-36_*680-6dup	ENSP00000515005.1:n.*680-36_*680-6dup
ENST00000264033.6:c.1228-36_1228-6dup MANE Select	ENSP00000264033.3:n.1228-36_1228-6dup
ENST00000637974.1:c.1222-36_1222-6dup	ENSP00000490763.1:n.1222-36_1222-6dup
ENST00000264033.5:c.1228-36_1228-6dup	ENSP00000264033.3:n.1228-36_1228-6dup
ENST00000634586.1:c.1228-36_1228-6dup	ENSP00000489218.1:n.1228-36_1228-6dup
ENST00000634840.1:c.1228-36_1228-6dup	ENSP00000489324.1:n.1228-36_1228-6dup
NM_005188.3:c.1228-36_1228-6dup , LRG_608t1:c.1228-36_1228-6dup	NP_005179.2:n.1228-36_1228-6dup
XM_011543057.1:c.1228-36_1228-6dup	XP_011541359.1:n.1228-36_1228-6dup
NM_005188.4:c.1228-36_1228-6dup MANE Select	NP_005179.2:n.1228-36_1228-6dup