Canonical Allele Identifier: CA16609388

Gene: ZBTB18

Linked Data

• ClinVar Variation Id: 397517
• ClinVar RCV Id: RCV000449542
• dbSNP Id: rs1060499655
• MyVariant Identifiers: chr1:g.244217675del (hg19) ; chr1:g.244054373del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244054373del , CM000663.2:g.244054373del	GRCh38
NC_000001.10:g.244217675del , CM000663.1:g.244217675del	GRCh37
NC_000001.9:g.242284298del	NCBI36
NG_033841.1:g.10435del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696615.1:c.572del	ENSP00000512755.1:p.Ser191Ter
ENST00000696616.1:c.572del	ENSP00000512756.1:p.Ser191Ter
ENST00000696617.1:c.*529del	ENSP00000512757.1:n.*529del
ENST00000696618.1:c.572del	ENSP00000512758.1:p.Ser191Ter
ENST00000358704.4:c.599del MANE Select	ENSP00000351539.4:p.Ser200Ter
ENST00000622512.1:c.572del	ENSP00000481278.1:p.Ser191Ter
NM_001278196.1:c.572del	NP_001265125.1:p.Ser191Ter
NM_006352.4:c.572del	NP_006343.2:p.Ser191Ter
NM_205768.2:c.599del	NP_991331.1:p.Ser200Ter
XM_005273006.2:c.572del	XP_005273063.1:p.Ser191Ter
XM_017000060.1:c.572del	XP_016855549.1:p.Ser191Ter
NM_001278196.2:c.572del	NP_001265125.1:p.Ser191Ter
NM_205768.3:c.599del MANE Select	NP_991331.1:p.Ser200Ter