Canonical Allele Identifier: CA16043934
Gene: ZNF148 HGNC NCBI

Linked Data

ClinVar Variation Id: 374845
dbSNP Id: rs1057519268

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.125233144_125233145insG , CM000665.2:g.125233144_125233145insG GRCh38
NC_000003.11:g.124951988_124951989insG , CM000665.1:g.124951988_124951989insG GRCh37
NC_000003.10:g.126434678_126434679insG NCBI36
NG_052987.1:g.147210_147211insC

Transcript Alleles

HGVS Amino-acid change
ENST00000471196.2:c.1581_1582insC ENSP00000420038.2:p.Lys528GlnfsTer3
ENST00000700044.1:c.1581_1582insC ENSP00000514760.1:p.Lys528GlnfsTer3
ENST00000360647.9:c.1581_1582insC MANE Select ENSP00000353863.4:p.Lys528GlnfsTer3
ENST00000360647.8:c.1581_1582insC ENSP00000353863.4:p.Lys528GlnfsTer3
ENST00000468369.5:c.122-491_122-490insC ENSP00000420102.1:n.122-491_122-490insC
ENST00000484491.5:c.1581_1582insC ENSP00000420335.1:p.Lys528GlnfsTer3
ENST00000485866.5:c.1581_1582insC ENSP00000420448.1:p.Lys528GlnfsTer3
ENST00000492394.5:c.1581_1582insC ENSP00000419322.1:p.Lys528GlnfsTer3
ENST00000496732.1:n.137_138insC
ENST00000497929.1:n.1577_1578insC
ENST00000544464.5:c.*214_*215insC ENSP00000437916.2:n.*214_*215insC
NM_021964.2:c.1581_1582insC NP_068799.2:p.Lys528GlnfsTer3
NM_001348424.1:c.1581_1582insC NP_001335353.1:p.Lys528GlnfsTer3
NM_001348425.2:c.1581_1582insC NP_001335354.1:p.Lys528GlnfsTer3
NM_001348426.2:c.1581_1582insC NP_001335355.1:p.Lys528GlnfsTer3
NM_001348427.2:c.1581_1582insC NP_001335356.1:p.Lys528GlnfsTer3
NM_001348428.2:c.1581_1582insC NP_001335357.1:p.Lys528GlnfsTer3
NM_001348429.2:c.1581_1582insC NP_001335358.1:p.Lys528GlnfsTer3
NM_001348430.2:c.1581_1582insC NP_001335359.1:p.Lys528GlnfsTer3
NM_001348431.2:c.1581_1582insC NP_001335360.1:p.Lys528GlnfsTer3
NM_001348432.2:c.1581_1582insC NP_001335361.1:p.Lys528GlnfsTer3
NM_001348433.2:c.1581_1582insC NP_001335362.1:p.Lys528GlnfsTer3
NM_001348434.2:c.1455_1456insC NP_001335363.1:p.Lys486GlnfsTer3
NM_021964.3:c.1581_1582insC MANE Select NP_068799.2:p.Lys528GlnfsTer3