Canonical Allele Identifier: CA970811072

Gene: KBTBD13

Linked Data

• gnomAD v3: 15-65077613-A-AGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG
• gnomAD v4: 15-65077613-A-AGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077613_65077614insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG , CM000677.2:g.65077613_65077614insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG	GRCh38
NC_000015.9:g.65369951_65369952insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG , CM000677.1:g.65369951_65369952insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG	GRCh37
NC_000015.8:g.63157004_63157005insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG	NCBI36
NG_021411.1:g.5798_5799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG , LRG_682:g.5798_5799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432196.5:c.798_799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG MANE Select	ENSP00000388723.2:p.Glu266_Phe267insGluAspAlaHisGlnGlnLeuTyrA...
ENST00000432196.3:c.798_799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG	ENSP00000388723.2:p.Glu266_Phe267insGluAspAlaHisGlnGlnLeuTyrA...
NM_001101362.2:c.798_799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG , LRG_682t1:c.798_799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG	NP_001094832.1:p.Glu266_Phe267insGluAspAlaHisGlnGlnLeuTyrAlaI...
NM_001101362.3:c.798_799insGAGGACGCCCATCAGCAACTCTACGCCATCGGCGGCGAG MANE Select	NP_001094832.1:p.Glu266_Phe267insGluAspAlaHisGlnGlnLeuTyrAlaI...