Canonical Allele Identifier: CA672425497

Gene: CBL

Linked Data

• dbSNP Id: rs1307562975
• gnomAD v3: 11-119278375-CA-C
• gnomAD v4: 11-119278375-CA-C
• MyVariant Identifiers: chr11:g.119149086del (hg19) ; chr11:g.119278376del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119278377del , CM000673.2:g.119278377del	GRCh38
NC_000011.9:g.119149087del , CM000673.1:g.119149087del	GRCh37
NC_000011.8:g.118654297del	NCBI36
NG_016808.1:g.77098del , LRG_608:g.77098del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*679+80del	ENSP00000515005.1:n.*679+80del
ENST00000264033.6:c.1227+80del MANE Select	ENSP00000264033.3:n.1227+80del
ENST00000637974.1:c.1221+80del	ENSP00000490763.1:n.1221+80del
ENST00000264033.5:c.1227+80del	ENSP00000264033.3:n.1227+80del
ENST00000634586.1:c.1227+80del	ENSP00000489218.1:n.1227+80del
ENST00000634840.1:c.1227+80del	ENSP00000489324.1:n.1227+80del
NM_005188.3:c.1227+80del , LRG_608t1:c.1227+80del	NP_005179.2:n.1227+80del
XM_011543057.1:c.1227+80del	XP_011541359.1:n.1227+80del
NM_005188.4:c.1227+80del MANE Select	NP_005179.2:n.1227+80del