Canonical Allele Identifier: CA2633583046
Gene: CNOT1 HGNC NCBI

Linked Data

gnomAD v4: 16-58533170-CAA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.58533172_58533173del , CM000678.2:g.58533172_58533173del GRCh38
NC_000016.9:g.58567076_58567077del , CM000678.1:g.58567076_58567077del GRCh37
NC_000016.8:g.57124577_57124578del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000317147.10:c.5896-777_5896-776del MANE Select ENSP00000320949.5:n.5896-777_5896-776del
ENST00000317147.9:c.5896-777_5896-776del ENSP00000320949.5:n.5896-777_5896-776del
ENST00000567188.5:c.5881-777_5881-776del ENSP00000456649.1:n.5881-777_5881-776del
ENST00000568917.1:c.1036-777_1036-776del ENSP00000454611.1:n.1036-777_1036-776del
ENST00000569240.5:c.5881-777_5881-776del ENSP00000455635.1:n.5881-777_5881-776del
NM_001265612.1:c.5881-777_5881-776del NP_001252541.1:n.5881-777_5881-776del
NM_016284.4:c.5896-777_5896-776del NP_057368.3:n.5896-777_5896-776del
NR_049763.1:n.6214-777_6214-776del
NM_016284.5:c.5896-777_5896-776del MANE Select NP_057368.3:n.5896-777_5896-776del
NM_001265612.2:c.5881-777_5881-776del NP_001252541.1:n.5881-777_5881-776del
NR_049763.2:n.6154-777_6154-776del
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