Canonical Allele Identifier: CA2183439964
Gene: KBTBD13 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077416_65077425delinsCTGGCCGGGG , CM000677.2:g.65077416_65077425delinsCTGGCCGGGG GRCh38
NC_000015.9:g.65369754_65369763delinsCTGGCCGGGG , CM000677.1:g.65369754_65369763delinsCTGGCCGGGG GRCh37
NC_000015.8:g.63156807_63156816delinsCTGGCCGGGG NCBI36
NG_021411.1:g.5601_5610delinsCTGGCCGGGG , LRG_682:g.5601_5610delinsCTGGCCGGGG

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.601_610delinsCTGGCCGGGG MANE Select ENSP00000388723.2:p.Leu201=
ENST00000432196.3:c.601_610delinsCTGGCCGGGG ENSP00000388723.2:p.Leu201=
NM_001101362.2:c.601_610delinsCTGGCCGGGG , LRG_682t1:c.601_610delinsCTGGCCGGGG NP_001094832.1:p.Leu201=
NM_001101362.3:c.601_610delinsCTGGCCGGGG MANE Select NP_001094832.1:p.Leu201=
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