Canonical Allele Identifier: CA2628987144
Gene: KBTBD13 HGNC NCBI

Linked Data

gnomAD v4: 15-65077421-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077425del , CM000677.2:g.65077425del GRCh38
NC_000015.9:g.65369763del , CM000677.1:g.65369763del GRCh37
NC_000015.8:g.63156816del NCBI36
NG_021411.1:g.5610del , LRG_682:g.5610del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.610del MANE Select ENSP00000388723.2:p.Val204TrpfsTer22
ENST00000432196.3:c.610del ENSP00000388723.2:p.Val204TrpfsTer22
NM_001101362.2:c.610del , LRG_682t1:c.610del NP_001094832.1:p.Val204TrpfsTer22
NM_001101362.3:c.610del MANE Select NP_001094832.1:p.Val204TrpfsTer22
Search 100 bp 5'
Search 100 bp 3'