Canonical Allele Identifier: CA295965
Gene: CBL HGNC NCBI

Linked Data

ClinVar Variation Id: 180808
ClinVar RCV Id: RCV001579695 RCV002498786
dbSNP Id: rs373212940
ExAC: 11:119077232 GCAC / G
gnomAD v2: 11-119077232-GCAC-G
gnomAD v3: 11-119206522-GCAC-G
gnomAD v4: 11-119206522-GCAC-G
MyVariant Identifiers: chr11:g.119077252_119077254del (hg19) chr11:g.119077242_119077244del (hg19) chr11:g.119077233_119077235del (hg19) chr11:g.119206542_119206544del (hg38) chr11:g.119206523_119206525del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.119206542_119206544del , CM000673.2:g.119206542_119206544del GRCh38
NC_000011.9:g.119077252_119077254del , CM000673.1:g.119077252_119077254del GRCh37
NC_000011.8:g.118582462_118582464del NCBI36
NG_016808.1:g.5263_5265del , LRG_608:g.5263_5265del

Transcript Alleles

HGVS Amino-acid change
ENST00000700472.1:c.125_127del ENSP00000515005.1:p.His42del
ENST00000264033.6:c.125_127del MANE Select ENSP00000264033.3:p.His42del
ENST00000637974.1:c.119_121del ENSP00000490763.1:p.His40del
ENST00000264033.5:c.125_127del ENSP00000264033.3:p.His42del
ENST00000634586.1:c.125_127del ENSP00000489218.1:p.His42del
ENST00000634840.1:c.125_127del ENSP00000489324.1:p.His42del
NM_005188.3:c.125_127del , LRG_608t1:c.125_127del NP_005179.2:p.His42del
XM_011543057.1:c.125_127del XP_011541359.1:p.His42del
NM_005188.4:c.125_127del MANE Select NP_005179.2:p.His42del
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