Canonical Allele Identifier: CA2183440170
Gene: KBTBD13 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077546C= , CM000677.2:g.65077546C= GRCh38
NC_000015.9:g.65369884C= , CM000677.1:g.65369884C= GRCh37
NC_000015.8:g.63156937C= NCBI36
NG_021411.1:g.5731C= , LRG_682:g.5731C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.731C= MANE Select ENSP00000388723.2:p.Pro244=
ENST00000432196.3:c.731C= ENSP00000388723.2:p.Pro244=
NM_001101362.2:c.731C= , LRG_682t1:c.731C= NP_001094832.1:p.Pro244=
NM_001101362.3:c.731C= MANE Select NP_001094832.1:p.Pro244=
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