Canonical Allele Identifier: CA2573320397
Gene: CBL HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277742_119277752del , CM000673.2:g.119277742_119277752del GRCh38
NC_000011.9:g.119148452_119148462del , CM000673.1:g.119148452_119148462del GRCh37
NC_000011.8:g.118653662_118653672del NCBI36
NG_016808.1:g.76463_76473del , LRG_608:g.76463_76473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*460-15_*460-5del ENSP00000515005.1:n.*460-15_*460-5del
ENST00000264033.6:c.1008-15_1008-5del MANE Select ENSP00000264033.3:n.1008-15_1008-5del
ENST00000637974.1:c.1002-15_1002-5del ENSP00000490763.1:n.1002-15_1002-5del
ENST00000264033.5:c.1008-15_1008-5del ENSP00000264033.3:n.1008-15_1008-5del
ENST00000634586.1:c.1008-15_1008-5del ENSP00000489218.1:n.1008-15_1008-5del
ENST00000634840.1:c.1008-15_1008-5del ENSP00000489324.1:n.1008-15_1008-5del
NM_005188.3:c.1008-15_1008-5del , LRG_608t1:c.1008-15_1008-5del NP_005179.2:n.1008-15_1008-5del
XM_011543057.1:c.1008-15_1008-5del XP_011541359.1:n.1008-15_1008-5del
NM_005188.4:c.1008-15_1008-5del MANE Select NP_005179.2:n.1008-15_1008-5del