Canonical Allele Identifier: CA602579207
Gene: CBL HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119298341C>G , CM000673.2:g.119298341C>G GRCh38
NC_000011.9:g.119169051C>G , CM000673.1:g.119169051C>G GRCh37
NC_000011.8:g.118674261C>G NCBI36
NG_016808.1:g.97062C>G , LRG_608:g.97062C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*1704-17C>G ENSP00000515005.1:n.*1704-17C>G
ENST00000264033.6:c.2252-17C>G MANE Select ENSP00000264033.3:n.2252-17C>G
ENST00000637974.1:c.2246-17C>G ENSP00000490763.1:n.2246-17C>G
ENST00000264033.5:c.2252-17C>G ENSP00000264033.3:n.2252-17C>G
ENST00000634586.1:c.2252-17C>G ENSP00000489218.1:n.2252-17C>G
ENST00000634840.1:c.2120-17C>G ENSP00000489324.1:n.2120-17C>G
NM_005188.3:c.2252-17C>G , LRG_608t1:c.2252-17C>G NP_005179.2:n.2252-17C>G
NM_005188.4:c.2252-17C>G MANE Select NP_005179.2:n.2252-17C>G
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