Canonical Allele Identifier: CA16614857
Gene: DNAAF4 HGNC NCBI
DNAAF4-CCPG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 410963
ClinVar RCV Id: RCV000460798
dbSNP Id: rs1060503095

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.55497816_55497818delinsAG , CM000677.2:g.55497816_55497818delinsAG GRCh38
NC_000015.9:g.55790014_55790016delinsAG , CM000677.1:g.55790014_55790016delinsAG GRCh37
NC_000015.8:g.53577306_53577308delinsAG NCBI36
NG_021213.1:g.15417_15419delinsCT

Transcript Alleles

HGVS Amino-acid change
ENST00000321149.7:c.165_167delinsCT (DNAAF4) MANE Select ENSP00000323275.3:p.Pro56SerfsTer2
ENST00000348518.4:c.165_167delinsCT (DNAAF4) ENSP00000299561.5:p.Pro56SerfsTer2
ENST00000448430.6:c.165_167delinsCT (DNAAF4) ENSP00000403412.2:p.Pro56SerfsTer2
ENST00000457155.6:c.165_167delinsCT (DNAAF4) ENSP00000402640.2:p.Pro56SerfsTer2
ENST00000519017.1:n.180_182delinsCT (DNAAF4)
ENST00000522437.1:c.124-8_124-6delinsCT (DNAAF4) ENSP00000429219.1:n.124-8_124-6delinsCT
ENST00000524160.5:c.165_167delinsCT (DNAAF4) ENSP00000428097.1:p.Pro56SerfsTer2
NM_001033559.2:c.165_167delinsCT (DNAAF4) NP_001028731.1:p.Pro56SerfsTer2
NM_001033560.1:c.165_167delinsCT (DNAAF4) NP_001028732.1:p.Pro56SerfsTer2
NM_130810.3:c.165_167delinsCT (DNAAF4) NP_570722.2:p.Pro56SerfsTer2
NR_037923.1:n.420_422delinsCT (DNAAF4-CCPG1)
NM_130810.4:c.165_167delinsCT (DNAAF4) MANE Select NP_570722.2:p.Pro56SerfsTer2
NM_001033559.3:c.165_167delinsCT (DNAAF4) NP_001028731.1:p.Pro56SerfsTer2
NM_001033560.2:c.165_167delinsCT (DNAAF4) NP_001028732.1:p.Pro56SerfsTer2