Canonical Allele Identifier: CA7613968
Gene: KBTBD13 HGNC NCBI

Linked Data

ClinVar Variation Id: 1428412
ClinVar RCV Id: RCV001948271
dbSNP Id: rs770027984
ExAC: 15:65369901 GAC / G
gnomAD v2: 15-65369901-GAC-G
gnomAD v3: 15-65077563-GAC-G
gnomAD v4: 15-65077563-GAC-G
MyVariant Identifiers: chr15:g.65369902_65369903del (hg19) chr15:g.65077564_65077565del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.65077567_65077568del , CM000677.2:g.65077567_65077568del GRCh38
NC_000015.9:g.65369905_65369906del , CM000677.1:g.65369905_65369906del GRCh37
NC_000015.8:g.63156958_63156959del NCBI36
NG_021411.1:g.5752_5753del , LRG_682:g.5752_5753del

Transcript Alleles

HGVS Amino-acid Change
ENST00000432196.5:c.752_753del MANE Select ENSP00000388723.2:p.Thr251SerfsTer?
ENST00000432196.3:c.752_753del ENSP00000388723.2:p.Thr251SerfsTer?
NM_001101362.2:c.752_753del , LRG_682t1:c.752_753del NP_001094832.1:p.Thr251SerfsTer?
NM_001101362.3:c.752_753del MANE Select NP_001094832.1:p.Thr251SerfsTer?
Search 100 bp 5'
Search 100 bp 3'