Canonical Allele Identifier: CA2628987441
Gene: KBTBD13 HGNC NCBI

Linked Data

gnomAD v4: 15-65077549-A-ACCAG
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077552_65077555dup , CM000677.2:g.65077552_65077555dup GRCh38
NC_000015.9:g.65369890_65369893dup , CM000677.1:g.65369890_65369893dup GRCh37
NC_000015.8:g.63156943_63156946dup NCBI36
NG_021411.1:g.5737_5740dup , LRG_682:g.5737_5740dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.737_740dup MANE Select ENSP00000388723.2:p.Arg248AlafsTer4
ENST00000432196.3:c.737_740dup ENSP00000388723.2:p.Arg248AlafsTer4
NM_001101362.2:c.737_740dup , LRG_682t1:c.737_740dup NP_001094832.1:p.Arg248AlafsTer4
NM_001101362.3:c.737_740dup MANE Select NP_001094832.1:p.Arg248AlafsTer4
Search 100 bp 5'
Search 100 bp 3'