Canonical Allele Identifier: CA658795668

Gene: ZBTB18

Linked Data

• ClinVar Variation Id: 504179
• ClinVar RCV Id: RCV000598700
• dbSNP Id: rs1553270611
• MyVariant Identifiers: chr1:g.244218418dup (hg19) ; chr1:g.244055116dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244055116dup , CM000663.2:g.244055116dup	GRCh38
NC_000001.10:g.244218418dup , CM000663.1:g.244218418dup	GRCh37
NC_000001.9:g.242285041dup	NCBI36
NG_033841.1:g.11178dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696615.1:c.*519dup	ENSP00000512755.1:n.*519dup
ENST00000696616.1:c.1315dup	ENSP00000512756.1:p.Thr439AsnfsTer?
ENST00000696617.1:c.*1272dup	ENSP00000512757.1:n.*1272dup
ENST00000696618.1:c.1315dup	ENSP00000512758.1:p.Thr439AsnfsTer?
ENST00000358704.4:c.1342dup MANE Select	ENSP00000351539.4:p.Thr448AsnfsTer?
ENST00000622512.1:c.1315dup	ENSP00000481278.1:p.Thr439AsnfsTer?
NM_001278196.1:c.1315dup	NP_001265125.1:p.Thr439AsnfsTer?
NM_006352.4:c.1315dup	NP_006343.2:p.Thr439AsnfsTer?
NM_205768.2:c.1342dup	NP_991331.1:p.Thr448AsnfsTer?
XM_005273006.2:c.1315dup	XP_005273063.1:p.Thr439AsnfsTer?
XM_017000060.1:c.1315dup	XP_016855549.1:p.Thr439AsnfsTer?
NM_001278196.2:c.1315dup	NP_001265125.1:p.Thr439AsnfsTer?
NM_205768.3:c.1342dup MANE Select	NP_991331.1:p.Thr448AsnfsTer?