Canonical Allele Identifier: CA2183440152

Gene: KBTBD13

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077539_65077549delinsCCCAGCCCGCA , CM000677.2:g.65077539_65077549delinsCCCAGCCCGCA	GRCh38
NC_000015.9:g.65369877_65369887delinsCCCAGCCCGCA , CM000677.1:g.65369877_65369887delinsCCCAGCCCGCA	GRCh37
NC_000015.8:g.63156930_63156940delinsCCCAGCCCGCA	NCBI36
NG_021411.1:g.5724_5734delinsCCCAGCCCGCA , LRG_682:g.5724_5734delinsCCCAGCCCGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432196.5:c.724_734delinsCCCAGCCCGCA MANE Select	ENSP00000388723.2:p.Pro242=
ENST00000432196.3:c.724_734delinsCCCAGCCCGCA	ENSP00000388723.2:p.Pro242=
NM_001101362.2:c.724_734delinsCCCAGCCCGCA , LRG_682t1:c.724_734delinsCCCAGCCCGCA	NP_001094832.1:p.Pro242=
NM_001101362.3:c.724_734delinsCCCAGCCCGCA MANE Select	NP_001094832.1:p.Pro242=