Canonical Allele Identifier: CA2575092872
Gene: ART4 HGNC NCBI
C12orf60 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14840750_14840751del , CM000674.2:g.14840750_14840751del GRCh38
NC_000012.11:g.14993684_14993685del , CM000674.1:g.14993684_14993685del GRCh37
NC_000012.10:g.14884951_14884952del NCBI36
NG_007477.2:g.7730_7731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000228936.6:c.548_549del (ART4) MANE Select ENSP00000228936.4:p.Tyr183Ter
ENST00000648334.1:n.125+11071_125+11072del (C12orf60)
ENST00000228936.4:c.548_549del (ART4) ENSP00000228936.4:p.Tyr183Ter
ENST00000420600.1:c.497_498del (ART4) ENSP00000405689.1:p.Tyr166Ter
ENST00000430129.6:c.165+332_165+333del (ART4) ENSP00000412735.2:n.165+332_165+333del
ENST00000527783.1:n.75+36999_75+37000del (C12orf60)
ENST00000533472.1:n.86+36999_86+37000del (C12orf60)
ENST00000544616.5:c.93+2220_93+2221del (ART4) ENSP00000442877.1:n.93+2220_93+2221del
NM_021071.2:c.548_549del (ART4) NP_066549.2:p.Tyr183Ter
NM_001354646.1:c.548_549del (ART4) NP_001341575.1:p.Tyr183Ter
NM_021071.3:c.548_549del (ART4) NP_066549.2:p.Tyr183Ter
NM_021071.4:c.548_549del (ART4) MANE Select NP_066549.2:p.Tyr183Ter
NM_001354646.2:c.548_549del (ART4) NP_001341575.1:p.Tyr183Ter