Canonical Allele Identifier: CA135697
Community Standard Title: NM_005188.4(CBL):c.1096-4_1096-1del
Gene: CBL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278162_119278165del , CM000673.2:g.119278162_119278165del GRCh38
NC_000011.9:g.119148872_119148875del , CM000673.1:g.119148872_119148875del GRCh37
NC_000011.8:g.118654082_118654085del NCBI36
NG_016808.1:g.76883_76886del , LRG_608:g.76883_76886del

Transcript Alleles

HGVS Amino-acid Change
NM_005188.4:c.1096-4_1096-1del MANE Select NP_005179.2:n.1096-4_1096-1del
ENST00000264033.6:c.1096-4_1096-1del MANE Select ENSP00000264033.3:n.1096-4_1096-1del
NM_005188.3:c.1096-4_1096-1del , LRG_608t1:c.1096-4_1096-1del NP_005179.2:n.1096-4_1096-1del
ENST00000264033.5:c.1096-4_1096-1del ENSP00000264033.3:n.1096-4_1096-1del
ENST00000634586.1:c.1096-4_1096-1del ENSP00000489218.1:n.1096-4_1096-1del
ENST00000634840.1:c.1096-4_1096-1del ENSP00000489324.1:n.1096-4_1096-1del
ENST00000637974.1:c.1090-4_1090-1del ENSP00000490763.1:n.1090-4_1090-1del
ENST00000700472.1:c.*548-4_*548-1del ENSP00000515005.1:n.*548-4_*548-1del
XM_011543057.1:c.1096-4_1096-1del XP_011541359.1:n.1096-4_1096-1del
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