Canonical Allele Identifier: CA2580614973
Community Standard Title: NM_014516.4(CNOT3):c.740_745dup (p.Ser247_His248dup)
Gene: CNOT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54145946_54145951dup , CM000681.2:g.54145946_54145951dup GRCh38
NC_000019.8:g.59341494_59341499dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014516.4:c.740_745dup MANE Select NP_055331.1:p.His248_Met249insSerHis
ENST00000221232.11:c.740_745dup MANE Select ENSP00000221232.5:p.His248_Met249insSerHis
NM_014516.3:c.740_745dup NP_055331.1:p.His248_Met249insSerHis
ENST00000221232.9:c.740_745dup ENSP00000221232.5:p.His248_Met249insSerHis
ENST00000358389.7:c.740_745dup ENSP00000351159.4:p.His248_Met249insSerHis
ENST00000440571.5:c.505_510dup
ENST00000440571.6:c.743_748dup ENSP00000398463.2:p.His249_Met250insSerHis
ENST00000447684.5:c.197_202dup ENSP00000411587.2:p.His67_Met68insSerHis
ENST00000613073.4:c.551_556dup
ENST00000617930.2:c.740_745dup ENSP00000496602.1:p.His248_Met249insSerHis
ENST00000618939.4:n.1253_1258dup
ENST00000618939.5:n.1278_1283dup
XM_005278279.1:c.743_748dup XP_005278336.1:p.His249_Met250insSerHis
XM_005278279.2:c.743_748dup XP_005278336.1:p.His249_Met250insSerHis
XM_005278280.2:c.743_748dup XP_005278337.1:p.His249_Met250insSerHis
XM_005278281.1:c.740_745dup XP_005278338.1:p.His248_Met249insSerHis
XM_005278281.2:c.740_745dup XP_005278338.1:p.His248_Met249insSerHis
XM_005278282.1:c.743_748dup XP_005278339.1:p.His249_Met250insSerHis
XM_005278282.3:c.743_748dup XP_005278339.1:p.His249_Met250insSerHis
XM_011526992.1:c.743_748dup XP_011525294.1:p.His249_Met250insSerHis
XM_011526992.2:c.743_748dup XP_011525294.1:p.His249_Met250insSerHis
XM_011526993.1:c.743_748dup XP_011525295.1:p.His249_Met250insSerHis
XM_011526993.3:c.743_748dup XP_011525295.1:p.His249_Met250insSerHis
XR_002958318.1:n.1038_1043dup
XR_002958319.1:n.1025_1030dup
XR_254515.1:n.1064_1069dup
XR_254515.3:n.1035_1040dup
XR_254516.3:n.1064_1069dup