Canonical Allele Identifier: CA2003905438

Gene: CBL

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.119277904_119277908delinsTAGAA , CM000673.2:g.119277904_119277908delinsTAGAA	GRCh38
NC_000011.9:g.119148614_119148618delinsTAGAA , CM000673.1:g.119148614_119148618delinsTAGAA	GRCh37
NC_000011.8:g.118653824_118653828delinsTAGAA	NCBI36
NG_016808.1:g.76625_76629delinsTAGAA , LRG_608:g.76625_76629delinsTAGAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700472.1:c.*547+60_*547+64delinsTAGAA	ENSP00000515005.1:n.*547+60_*547+64delinsTAGAA
ENST00000264033.6:c.1095+60_1095+64delinsTAGAA MANE Select	ENSP00000264033.3:n.1095+60_1095+64delinsTAGAA
ENST00000637974.1:c.1089+60_1089+64delinsTAGAA	ENSP00000490763.1:n.1089+60_1089+64delinsTAGAA
ENST00000264033.5:c.1095+60_1095+64delinsTAGAA	ENSP00000264033.3:n.1095+60_1095+64delinsTAGAA
ENST00000634586.1:c.1095+60_1095+64delinsTAGAA	ENSP00000489218.1:n.1095+60_1095+64delinsTAGAA
ENST00000634840.1:c.1095+60_1095+64delinsTAGAA	ENSP00000489324.1:n.1095+60_1095+64delinsTAGAA
NM_005188.3:c.1095+60_1095+64delinsTAGAA , LRG_608t1:c.1095+60_1095+64delinsTAGAA	NP_005179.2:n.1095+60_1095+64delinsTAGAA
XM_011543057.1:c.1095+60_1095+64delinsTAGAA	XP_011541359.1:n.1095+60_1095+64delinsTAGAA
NM_005188.4:c.1095+60_1095+64delinsTAGAA MANE Select	NP_005179.2:n.1095+60_1095+64delinsTAGAA