Canonical Allele Identifier: CA2617788075
Gene: ART4 HGNC NCBI
C12orf60 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14840755_14840756del , CM000674.2:g.14840755_14840756del GRCh38
NC_000012.11:g.14993689_14993690del , CM000674.1:g.14993689_14993690del GRCh37
NC_000012.10:g.14884956_14884957del NCBI36
NG_007477.2:g.7726_7727del

Transcript Alleles

HGVS Amino-acid Change
ENST00000228936.6:c.544_545del (ART4) MANE Select ENSP00000228936.4:p.Cys182LeufsTer2
ENST00000648334.1:n.125+11076_125+11077del (C12orf60)
ENST00000228936.4:c.544_545del (ART4) ENSP00000228936.4:p.Cys182LeufsTer2
ENST00000420600.1:c.493_494del (ART4) ENSP00000405689.1:p.Cys165LeufsTer2
ENST00000430129.6:c.165+328_165+329del (ART4) ENSP00000412735.2:n.165+328_165+329del
ENST00000527783.1:n.75+37004_75+37005del (C12orf60)
ENST00000533472.1:n.86+37004_86+37005del (C12orf60)
ENST00000544616.5:c.93+2216_93+2217del (ART4) ENSP00000442877.1:n.93+2216_93+2217del
NM_021071.2:c.544_545del (ART4) NP_066549.2:p.Cys182LeufsTer2
NM_001354646.1:c.544_545del (ART4) NP_001341575.1:p.Cys182LeufsTer2
NM_021071.3:c.544_545del (ART4) NP_066549.2:p.Cys182LeufsTer2
NM_021071.4:c.544_545del (ART4) MANE Select NP_066549.2:p.Cys182LeufsTer2
NM_001354646.2:c.544_545del (ART4) NP_001341575.1:p.Cys182LeufsTer2