Canonical Allele Identifier: CA2793839042

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119277830_119277831insCACACCCAAC , CM000673.2:g.119277830_119277831insCACACCCAAC	GRCh38
NC_000011.9:g.119148540_119148541insCACACCCAAC , CM000673.1:g.119148540_119148541insCACACCCAAC	GRCh37
NC_000011.8:g.118653750_118653751insCACACCCAAC	NCBI36
NG_016808.1:g.76551_76552insCACACCCAAC , LRG_608:g.76551_76552insCACACCCAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*533_*534insCACACCCAAC	ENSP00000515005.1:n.*533_*534insCACACCCAAC
ENST00000264033.6:c.1081_1082insCACACCCAAC MANE Select	ENSP00000264033.3:p.Ile361ThrfsTer12
ENST00000637974.1:c.1075_1076insCACACCCAAC	ENSP00000490763.1:p.Ile359ThrfsTer12
ENST00000264033.5:c.1081_1082insCACACCCAAC	ENSP00000264033.3:p.Ile361ThrfsTer12
ENST00000634586.1:c.1081_1082insCACACCCAAC	ENSP00000489218.1:p.Ile361ThrfsTer12
ENST00000634840.1:c.1081_1082insCACACCCAAC	ENSP00000489324.1:p.Ile361ThrfsTer12
NM_005188.3:c.1081_1082insCACACCCAAC , LRG_608t1:c.1081_1082insCACACCCAAC	NP_005179.2:p.Ile361ThrfsTer12
XM_011543057.1:c.1081_1082insCACACCCAAC	XP_011541359.1:p.Ile361ThrfsTer12
NM_005188.4:c.1081_1082insCACACCCAAC MANE Select	NP_005179.2:p.Ile361ThrfsTer12