Canonical Allele Identifier: CA2697549138
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 2722954
ClinVar RCV Id: RCV003526842
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077612_65077613delinsTG , CM000677.2:g.65077612_65077613delinsTG GRCh38
NC_000015.9:g.65369950_65369951delinsTG , CM000677.1:g.65369950_65369951delinsTG GRCh37
NC_000015.8:g.63157003_63157004delinsTG NCBI36
NG_021411.1:g.5797_5798delinsTG , LRG_682:g.5797_5798delinsTG

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.797_798delinsTG MANE Select ENSP00000388723.2:p.Glu266Val
ENST00000432196.3:c.797_798delinsTG ENSP00000388723.2:p.Glu266Val
NM_001101362.2:c.797_798delinsTG , LRG_682t1:c.797_798delinsTG NP_001094832.1:p.Glu266Val
NM_001101362.3:c.797_798delinsTG MANE Select NP_001094832.1:p.Glu266Val
Search 100 bp 5'
Search 100 bp 3'