Canonical Allele Identifier: CA942792405

Gene: CBL

Linked Data

• dbSNP Id: rs1949907166
• gnomAD v3: 11-119278454-TTAA-T
• gnomAD v4: 11-119278454-TTAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278457_119278459del , CM000673.2:g.119278457_119278459del	GRCh38
NC_000011.9:g.119149167_119149169del , CM000673.1:g.119149167_119149169del	GRCh37
NC_000011.8:g.118654377_118654379del	NCBI36
NG_016808.1:g.77178_77180del , LRG_608:g.77178_77180del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*680-53_*680-51del	ENSP00000515005.1:n.*680-53_*680-51del
ENST00000264033.6:c.1228-53_1228-51del MANE Select	ENSP00000264033.3:n.1228-53_1228-51del
ENST00000637974.1:c.1222-53_1222-51del	ENSP00000490763.1:n.1222-53_1222-51del
ENST00000264033.5:c.1228-53_1228-51del	ENSP00000264033.3:n.1228-53_1228-51del
ENST00000634586.1:c.1228-53_1228-51del	ENSP00000489218.1:n.1228-53_1228-51del
ENST00000634840.1:c.1228-53_1228-51del	ENSP00000489324.1:n.1228-53_1228-51del
NM_005188.3:c.1228-53_1228-51del , LRG_608t1:c.1228-53_1228-51del	NP_005179.2:n.1228-53_1228-51del
XM_011543057.1:c.1228-53_1228-51del	XP_011541359.1:n.1228-53_1228-51del
NM_005188.4:c.1228-53_1228-51del MANE Select	NP_005179.2:n.1228-53_1228-51del