Canonical Allele Identifier: CA2628987448
Gene: KBTBD13 HGNC NCBI

Linked Data

gnomAD v4: 15-65077577-CG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077579del , CM000677.2:g.65077579del GRCh38
NC_000015.9:g.65369917del , CM000677.1:g.65369917del GRCh37
NC_000015.8:g.63156970del NCBI36
NG_021411.1:g.5764del , LRG_682:g.5764del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.764del MANE Select ENSP00000388723.2:p.Gly255AlafsTer?
ENST00000432196.3:c.764del ENSP00000388723.2:p.Gly255AlafsTer?
NM_001101362.2:c.764del , LRG_682t1:c.764del NP_001094832.1:p.Gly255AlafsTer?
NM_001101362.3:c.764del MANE Select NP_001094832.1:p.Gly255AlafsTer?
Search 100 bp 5'
Search 100 bp 3'