Canonical Allele Identifier: CA2580614971
Community Standard Title: NM_014516.4(CNOT3):c.148_150del (p.Lys50del)
Gene: CNOT3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.54143496_54143498del , CM000681.2:g.54143496_54143498del GRCh38
NC_000019.8:g.59339044_59339046del NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_014516.4:c.148_150del MANE Select NP_055331.1:p.Lys50del
ENST00000221232.11:c.148_150del MANE Select ENSP00000221232.5:p.Lys50del
NM_014516.3:c.148_150del NP_055331.1:p.Lys50del
ENST00000221232.9:c.148_150del ENSP00000221232.5:p.Lys50del
ENST00000358389.7:c.148_150del ENSP00000351159.4:p.Lys50del
ENST00000440571.6:c.148_150del ENSP00000398463.2:p.Lys50del
ENST00000617930.2:c.148_150del ENSP00000496602.1:p.Lys50del
ENST00000618939.4:n.405_407del
ENST00000618939.5:n.430_432del
ENST00000644245.1:c.148_150del ENSP00000496534.1:p.Lys50del
ENST00000646002.1:c.-130+493_-130+495del ENSP00000495445.1:n.-130+493_-130+495del
XM_005278279.1:c.148_150del XP_005278336.1:p.Lys50del
XM_005278279.2:c.148_150del XP_005278336.1:p.Lys50del
XM_005278280.2:c.148_150del XP_005278337.1:p.Lys50del
XM_005278281.1:c.148_150del XP_005278338.1:p.Lys50del
XM_005278281.2:c.148_150del XP_005278338.1:p.Lys50del
XM_005278282.1:c.148_150del XP_005278339.1:p.Lys50del
XM_005278282.3:c.148_150del XP_005278339.1:p.Lys50del
XM_011526992.1:c.148_150del XP_011525294.1:p.Lys50del
XM_011526992.2:c.148_150del XP_011525294.1:p.Lys50del
XM_011526993.1:c.148_150del XP_011525295.1:p.Lys50del
XM_011526993.3:c.148_150del XP_011525295.1:p.Lys50del
XR_002958318.1:n.443_445del
XR_002958319.1:n.430_432del
XR_254515.1:n.472_474del
XR_254515.3:n.443_445del
XR_254516.3:n.472_474del