Canonical Allele Identifier: CA2628987440
Gene: KBTBD13 HGNC NCBI

Linked Data

gnomAD v4: 15-65077544-C-CCCG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077546_65077548dup , CM000677.2:g.65077546_65077548dup GRCh38
NC_000015.9:g.65369884_65369886dup , CM000677.1:g.65369884_65369886dup GRCh37
NC_000015.8:g.63156937_63156939dup NCBI36
NG_021411.1:g.5731_5733dup , LRG_682:g.5731_5733dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.731_733dup MANE Select ENSP00000388723.2:p.Pro244_His245insPro
ENST00000432196.3:c.731_733dup ENSP00000388723.2:p.Pro244_His245insPro
NM_001101362.2:c.731_733dup , LRG_682t1:c.731_733dup NP_001094832.1:p.Pro244_His245insPro
NM_001101362.3:c.731_733dup MANE Select NP_001094832.1:p.Pro244_His245insPro
Search 100 bp 5'
Search 100 bp 3'