Canonical Allele Identifier: CA2183440306
Gene: KBTBD13 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077604C= , CM000677.2:g.65077604C= GRCh38
NC_000015.9:g.65369942C= , CM000677.1:g.65369942C= GRCh37
NC_000015.8:g.63156995C= NCBI36
NG_021411.1:g.5789C= , LRG_682:g.5789C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.789C= MANE Select ENSP00000388723.2:p.Ile263=
ENST00000432196.3:c.789C= ENSP00000388723.2:p.Ile263=
NM_001101362.2:c.789C= , LRG_682t1:c.789C= NP_001094832.1:p.Ile263=
NM_001101362.3:c.789C= MANE Select NP_001094832.1:p.Ile263=
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