Canonical Allele Identifier: CA2616387378
Gene: CBL HGNC NCBI

Linked Data

gnomAD v4: 11-119278425-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119278425G>C , CM000673.2:g.119278425G>C GRCh38
NC_000011.9:g.119149135G>C , CM000673.1:g.119149135G>C GRCh37
NC_000011.8:g.118654345G>C NCBI36
NG_016808.1:g.77146G>C , LRG_608:g.77146G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.*680-85G>C ENSP00000515005.1:n.*680-85G>C
ENST00000264033.6:c.1228-85G>C MANE Select ENSP00000264033.3:n.1228-85G>C
ENST00000637974.1:c.1222-85G>C ENSP00000490763.1:n.1222-85G>C
ENST00000264033.5:c.1228-85G>C ENSP00000264033.3:n.1228-85G>C
ENST00000634586.1:c.1228-85G>C ENSP00000489218.1:n.1228-85G>C
ENST00000634840.1:c.1228-85G>C ENSP00000489324.1:n.1228-85G>C
NM_005188.3:c.1228-85G>C , LRG_608t1:c.1228-85G>C NP_005179.2:n.1228-85G>C
XM_011543057.1:c.1228-85G>C XP_011541359.1:n.1228-85G>C
NM_005188.4:c.1228-85G>C MANE Select NP_005179.2:n.1228-85G>C
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