Canonical Allele Identifier: CA2575013260
Gene: CBL HGNC NCBI

Linked Data

dbSNP Id: rs900760127
gnomAD v4: 11-119278090-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278090C>A , CM000673.2:g.119278090C>A GRCh38
NC_000011.9:g.119148800C>A , CM000673.1:g.119148800C>A GRCh37
NC_000011.8:g.118654010C>A NCBI36
NG_016808.1:g.76811C>A , LRG_608:g.76811C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.*548-76C>A ENSP00000515005.1:n.*548-76C>A
ENST00000264033.6:c.1096-76C>A MANE Select ENSP00000264033.3:n.1096-76C>A
ENST00000637974.1:c.1090-76C>A ENSP00000490763.1:n.1090-76C>A
ENST00000264033.5:c.1096-76C>A ENSP00000264033.3:n.1096-76C>A
ENST00000634586.1:c.1096-76C>A ENSP00000489218.1:n.1096-76C>A
ENST00000634840.1:c.1096-76C>A ENSP00000489324.1:n.1096-76C>A
NM_005188.3:c.1096-76C>A , LRG_608t1:c.1096-76C>A NP_005179.2:n.1096-76C>A
XM_011543057.1:c.1096-76C>A XP_011541359.1:n.1096-76C>A
NM_005188.4:c.1096-76C>A MANE Select NP_005179.2:n.1096-76C>A
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