Canonical Allele Identifier: CA16043933
Gene: ZNF148 HGNC NCBI

Linked Data

ClinVar Variation Id: 374844
ClinVar RCV Id: RCV000415583
dbSNP Id: rs1057519267

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.125233756dup , CM000665.2:g.125233756dup GRCh38
NC_000003.11:g.124952600dup , CM000665.1:g.124952600dup GRCh37
NC_000003.10:g.126435290dup NCBI36
NG_052987.1:g.146599dup

Transcript Alleles

HGVS Amino-acid change
ENST00000471196.2:c.970dup ENSP00000420038.2:p.Ser324PhefsTer14
ENST00000700044.1:c.970dup ENSP00000514760.1:p.Ser324PhefsTer14
ENST00000360647.9:c.970dup MANE Select ENSP00000353863.4:p.Ser324PhefsTer14
ENST00000360647.8:c.970dup ENSP00000353863.4:p.Ser324PhefsTer14
ENST00000468369.5:c.121+544dup ENSP00000420102.1:n.121+544dup
ENST00000484491.5:c.970dup ENSP00000420335.1:p.Ser324PhefsTer14
ENST00000485866.5:c.970dup ENSP00000420448.1:p.Ser324PhefsTer14
ENST00000492394.5:c.970dup ENSP00000419322.1:p.Ser324PhefsTer14
ENST00000497929.1:n.966dup
ENST00000544464.5:c.970dup ENSP00000437916.2:p.Ser324PhefsTer14
NM_021964.2:c.970dup NP_068799.2:p.Ser324PhefsTer14
NM_001348424.1:c.970dup NP_001335353.1:p.Ser324PhefsTer14
NM_001348425.2:c.970dup NP_001335354.1:p.Ser324PhefsTer14
NM_001348426.2:c.970dup NP_001335355.1:p.Ser324PhefsTer14
NM_001348427.2:c.970dup NP_001335356.1:p.Ser324PhefsTer14
NM_001348428.2:c.970dup NP_001335357.1:p.Ser324PhefsTer14
NM_001348429.2:c.970dup NP_001335358.1:p.Ser324PhefsTer14
NM_001348430.2:c.970dup NP_001335359.1:p.Ser324PhefsTer14
NM_001348431.2:c.970dup NP_001335360.1:p.Ser324PhefsTer14
NM_001348432.2:c.970dup NP_001335361.1:p.Ser324PhefsTer14
NM_001348433.2:c.970dup NP_001335362.1:p.Ser324PhefsTer14
NM_001348434.2:c.844dup NP_001335363.1:p.Ser282PhefsTer14
NM_021964.3:c.970dup MANE Select NP_068799.2:p.Ser324PhefsTer14