Canonical Allele Identifier: CA16617122

Gene: ZBTB18

Linked Data

• ClinVar Variation Id: 424193
• ClinVar RCV Id: RCV000485658 ; RCV002264945
• dbSNP Id: rs1553270470
• MyVariant Identifiers: chr1:g.244217876dupA (hg19) ; chr1:g.244054574dupA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.244054574dup , CM000663.2:g.244054574dup	GRCh38
NC_000001.10:g.244217876dup , CM000663.1:g.244217876dup	GRCh37
NC_000001.9:g.242284499dup	NCBI36
NG_033841.1:g.10636dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696615.1:c.675-14dup	ENSP00000512755.1:n.675-14dup
ENST00000696616.1:c.773dup	ENSP00000512756.1:p.Tyr258Ter
ENST00000696617.1:c.*730dup	ENSP00000512757.1:n.*730dup
ENST00000696618.1:c.773dup	ENSP00000512758.1:p.Tyr258Ter
ENST00000358704.4:c.800dup MANE Select	ENSP00000351539.4:p.Tyr267Ter
ENST00000622512.1:c.773dup	ENSP00000481278.1:p.Tyr258Ter
NM_001278196.1:c.773dup	NP_001265125.1:p.Tyr258Ter
NM_006352.4:c.773dup	NP_006343.2:p.Tyr258Ter
NM_205768.2:c.800dup	NP_991331.1:p.Tyr267Ter
XM_005273006.2:c.773dup	XP_005273063.1:p.Tyr258Ter
XM_017000060.1:c.773dup	XP_016855549.1:p.Tyr258Ter
NM_001278196.2:c.773dup	NP_001265125.1:p.Tyr258Ter
NM_205768.3:c.800dup MANE Select	NP_991331.1:p.Tyr267Ter