Canonical Allele Identifier: CA2183440810
Gene: KBTBD13 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077791_65077792delinsCG , CM000677.2:g.65077791_65077792delinsCG GRCh38
NC_000015.9:g.65370129_65370130delinsCG , CM000677.1:g.65370129_65370130delinsCG GRCh37
NC_000015.8:g.63157182_63157183delinsCG NCBI36
NG_021411.1:g.5976_5977delinsCG , LRG_682:g.5976_5977delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000432196.5:c.976_977delinsCG MANE Select ENSP00000388723.2:p.Arg326=
ENST00000432196.3:c.976_977delinsCG ENSP00000388723.2:p.Arg326=
NM_001101362.2:c.976_977delinsCG , LRG_682t1:c.976_977delinsCG NP_001094832.1:p.Arg326=
NM_001101362.3:c.976_977delinsCG MANE Select NP_001094832.1:p.Arg326=
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