Canonical Allele Identifier: CA2183440212

Gene: KBTBD13

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077563_65077565delinsGAC , CM000677.2:g.65077563_65077565delinsGAC	GRCh38
NC_000015.9:g.65369901_65369903delinsGAC , CM000677.1:g.65369901_65369903delinsGAC	GRCh37
NC_000015.8:g.63156954_63156956delinsGAC	NCBI36
NG_021411.1:g.5748_5750delinsGAC , LRG_682:g.5748_5750delinsGAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432196.5:c.748_750delinsGAC MANE Select	ENSP00000388723.2:p.Asp250=
ENST00000432196.3:c.748_750delinsGAC	ENSP00000388723.2:p.Asp250=
NM_001101362.2:c.748_750delinsGAC , LRG_682t1:c.748_750delinsGAC	NP_001094832.1:p.Asp250=
NM_001101362.3:c.748_750delinsGAC MANE Select	NP_001094832.1:p.Asp250=