Canonical Allele Identifier: CA2580097783
Community Standard Title: NM_014516.4(CNOT3):c.1242dup (p.Ser415GlnfsTer?)
Gene: CNOT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54148495dup , CM000681.2:g.54148495dup GRCh38
NC_000019.8:g.59344042dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014516.4:c.1242dup MANE Select NP_055331.1:p.Ser415GlnfsTer?
ENST00000221232.11:c.1242dup MANE Select ENSP00000221232.5:p.Ser415GlnfsTer?
NM_014516.3:c.1242dup NP_055331.1:p.Ser415GlnfsTer?
ENST00000221232.9:c.1242dup ENSP00000221232.5:p.Ser415GlnfsTer?
ENST00000358389.7:c.1242dup ENSP00000351159.4:p.Ser415GlnfsTer?
ENST00000440571.5:c.1007dup
ENST00000440571.6:c.1245dup ENSP00000398463.2:p.Ser416GlnfsTer?
ENST00000447684.5:c.699dup ENSP00000411587.2:p.Ser234GlnfsTer?
ENST00000613073.4:c.1053dup
ENST00000617930.2:c.1242dup ENSP00000496602.1:p.Ser415GlnfsTer?
ENST00000618939.4:n.1755dup
ENST00000618939.5:n.1780dup
XM_005278279.1:c.1245dup XP_005278336.1:p.Ser416GlnfsTer?
XM_005278279.2:c.1245dup XP_005278336.1:p.Ser416GlnfsTer?
XM_005278280.2:c.1245dup XP_005278337.1:p.Ser416GlnfsTer?
XM_005278281.1:c.1242dup XP_005278338.1:p.Ser415GlnfsTer?
XM_005278281.2:c.1242dup XP_005278338.1:p.Ser415GlnfsTer?
XM_005278282.1:c.1245dup XP_005278339.1:p.Ser416GlnfsTer?
XM_005278282.3:c.1245dup XP_005278339.1:p.Ser416GlnfsTer?
XM_011526992.1:c.1245dup XP_011525294.1:p.Ser416GlnfsTer?
XM_011526992.2:c.1245dup XP_011525294.1:p.Ser416GlnfsTer?
XM_011526993.1:c.1245dup XP_011525295.1:p.Ser416GlnfsTer?
XM_011526993.3:c.1245dup XP_011525295.1:p.Ser416GlnfsTer?
XR_001754001.2:n.963+533dup
XR_002958318.1:n.1540dup
XR_002958319.1:n.1527dup
XR_254515.1:n.1566dup
XR_254515.3:n.1537dup
XR_254516.3:n.1566dup
XR_430258.2:n.1375+533dup
XR_936070.1:n.1375+533dup