Canonical Allele Identifier: CA1042472623

Gene: CNOT9

Linked Data

• gnomAD v3: 2-218584655-T-TGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC
• gnomAD v4: 2-218584655-T-TGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.218584655_218584656insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC , CM000664.2:g.218584655_218584656insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	GRCh38
NC_000002.11:g.219449378_219449379insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC , CM000664.1:g.219449378_219449379insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	GRCh37
NC_000002.10:g.219157622_219157623insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000273064.11:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC MANE Select	ENSP00000273064.6:p.Phe122CysfsTer5
ENST00000273064.10:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	ENSP00000273064.6:p.Phe122CysfsTer5
ENST00000295701.9:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	ENSP00000295701.5:p.Phe122CysfsTer5
ENST00000432877.5:c.*256_*257insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	ENSP00000392394.1:n.*256_*257insGTGTAAGGCACTGACCTTACACAGCTTTA...
ENST00000542068.5:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	ENSP00000443687.1:p.Phe122CysfsTer5
ENST00000627282.2:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	ENSP00000486540.1:p.Phe122CysfsTer5
NM_001271634.1:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	NP_001258563.1:p.Phe122CysfsTer5
NM_001271635.1:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	NP_001258564.1:p.Phe122CysfsTer5
NM_005444.2:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	NP_005435.1:p.Phe122CysfsTer5
NR_073390.1:n.695+1569_695+1570insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC
XM_011512138.1:c.205_206insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	XP_011510440.1:p.Phe69CysfsTer5
XM_011512138.3:c.205_206insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	XP_011510440.1:p.Phe69CysfsTer5
XM_017005248.1:c.202_203insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	XP_016860737.1:p.Phe68CysfsTer5
XM_017005249.2:c.205_206insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	XP_016860738.1:p.Phe69CysfsTer5
NM_001271634.2:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	NP_001258563.1:p.Phe122CysfsTer5
NM_005444.3:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC MANE Select	NP_005435.1:p.Phe122CysfsTer5
NR_073390.2:n.436+1569_436+1570insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC
NM_001271635.2:c.364_365insGTGTAAGGCACTGACCTTACACAGCTTTAGAGAAATTACTAAGAAAATTAC	NP_001258564.1:p.Phe122CysfsTer5