Canonical Allele Identifier: CA2628987444

Gene: KBTBD13

Linked Data

• gnomAD v4: 15-65077566-ACAGCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077568_65077572del , CM000677.2:g.65077568_65077572del	GRCh38
NC_000015.9:g.65369906_65369910del , CM000677.1:g.65369906_65369910del	GRCh37
NC_000015.8:g.63156959_63156963del	NCBI36
NG_021411.1:g.5753_5757del , LRG_682:g.5753_5757del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432196.5:c.753_757del MANE Select	ENSP00000388723.2:p.Ala252GlyfsTer?
ENST00000432196.3:c.753_757del	ENSP00000388723.2:p.Ala252GlyfsTer?
NM_001101362.2:c.753_757del , LRG_682t1:c.753_757del	NP_001094832.1:p.Ala252GlyfsTer?
NM_001101362.3:c.753_757del MANE Select	NP_001094832.1:p.Ala252GlyfsTer?