Canonical Allele Identifier: CA431228434
Gene: CNOT9 HGNC NCBI

Linked Data

dbSNP Id: rs1694530795
MyVariant Identifiers: chr2:g.219449364del (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.218584647del , CM000664.2:g.218584647del GRCh38
NC_000002.11:g.219449370del , CM000664.1:g.219449370del GRCh37
NC_000002.10:g.219157614del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000273064.11:c.356del MANE Select ENSP00000273064.6:p.Leu119CysfsTer29
ENST00000273064.10:c.356del ENSP00000273064.6:p.Leu119CysfsTer29
ENST00000295701.9:c.356del ENSP00000295701.5:p.Leu119CysfsTer29
ENST00000432877.5:c.*248del ENSP00000392394.1:n.*248del
ENST00000542068.5:c.356del ENSP00000443687.1:p.Leu119CysfsTer29
ENST00000627282.2:c.356del ENSP00000486540.1:p.Leu119CysfsTer26
NM_001271634.1:c.356del NP_001258563.1:p.Leu119CysfsTer26
NM_001271635.1:c.356del NP_001258564.1:p.Leu119CysfsTer29
NM_005444.2:c.356del NP_005435.1:p.Leu119CysfsTer29
NR_073390.1:n.695+1561del
XM_011512138.1:c.197del XP_011510440.1:p.Leu66CysfsTer29
XM_011512138.3:c.197del XP_011510440.1:p.Leu66CysfsTer29
XM_017005248.1:c.194del XP_016860737.1:p.Leu65CysfsTer29
XM_017005249.2:c.197del XP_016860738.1:p.Leu66CysfsTer29
NM_001271634.2:c.356del NP_001258563.1:p.Leu119CysfsTer26
NM_005444.3:c.356del MANE Select NP_005435.1:p.Leu119CysfsTer29
NR_073390.2:n.436+1561del
NM_001271635.2:c.356del NP_001258564.1:p.Leu119CysfsTer29