Canonical Allele Identifier: CA2616387235
Gene: CBL HGNC NCBI

Linked Data

gnomAD v4: 11-119277799-TG-T
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119277801del , CM000673.2:g.119277801del GRCh38
NC_000011.9:g.119148511del , CM000673.1:g.119148511del GRCh37
NC_000011.8:g.118653721del NCBI36
NG_016808.1:g.76522del , LRG_608:g.76522del

Transcript Alleles

HGVS Amino-acid Change
ENST00000700472.1:c.*504del ENSP00000515005.1:n.*504del
ENST00000264033.6:c.1052del MANE Select ENSP00000264033.3:p.Gly351AlafsTer13
ENST00000637974.1:c.1046del ENSP00000490763.1:p.Gly349AlafsTer13
ENST00000264033.5:c.1052del ENSP00000264033.3:p.Gly351AlafsTer13
ENST00000634586.1:c.1052del ENSP00000489218.1:p.Gly351AlafsTer13
ENST00000634840.1:c.1052del ENSP00000489324.1:p.Gly351AlafsTer13
NM_005188.3:c.1052del , LRG_608t1:c.1052del NP_005179.2:p.Gly351AlafsTer13
XM_011543057.1:c.1052del XP_011541359.1:p.Gly351AlafsTer13
NM_005188.4:c.1052del MANE Select NP_005179.2:p.Gly351AlafsTer13
Search 100 bp 5'
Search 100 bp 3'