Canonical Allele Identifier: CA2628987438

Gene: KBTBD13

Linked Data

• gnomAD v4: 15-65077537-TC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65077541del , CM000677.2:g.65077541del	GRCh38
NC_000015.9:g.65369879del , CM000677.1:g.65369879del	GRCh37
NC_000015.8:g.63156932del	NCBI36
NG_021411.1:g.5726del , LRG_682:g.5726del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000432196.5:c.726del MANE Select	ENSP00000388723.2:p.Ser243AlafsTer?
ENST00000432196.3:c.726del	ENSP00000388723.2:p.Ser243AlafsTer?
NM_001101362.2:c.726del , LRG_682t1:c.726del	NP_001094832.1:p.Ser243AlafsTer?
NM_001101362.3:c.726del MANE Select	NP_001094832.1:p.Ser243AlafsTer?