Canonical Allele Identifier: CA2183440817
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1690395
ClinVar RCV Id: RCV002252813
dbSNP Id: rs2087000351
gnomAD v4: 15-65077791-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077793del , CM000677.2:g.65077793del GRCh38
NC_000015.9:g.65370131del , CM000677.1:g.65370131del GRCh37
NC_000015.8:g.63157184del NCBI36
NG_021411.1:g.5978del , LRG_682:g.5978del

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.978del MANE Select ENSP00000388723.2:p.Thr327ProfsTer?
ENST00000432196.3:c.978del ENSP00000388723.2:p.Thr327ProfsTer?
NM_001101362.2:c.978del , LRG_682t1:c.978del NP_001094832.1:p.Thr327ProfsTer?
NM_001101362.3:c.978del MANE Select NP_001094832.1:p.Thr327ProfsTer?
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