Canonical Allele Identifier: CA2633583206

Gene: CNOT1

Linked Data

• gnomAD v4: 16-58533264-ATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAAGTCGAGGCAGGCGGGTCACTTGAGGGACCCAATAGGGTTAAGAACCACTGACGTGGCCGGGCGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.58533267_58533366del , CM000678.2:g.58533267_58533366del	GRCh38
NC_000016.9:g.58567171_58567270del , CM000678.1:g.58567171_58567270del	GRCh37
NC_000016.8:g.57124672_57124771del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000317147.10:c.5895+783_5896-870del MANE Select	ENSP00000320949.5:n.5895+783_5896-870del
ENST00000317147.9:c.5895+783_5896-870del	ENSP00000320949.5:n.5895+783_5896-870del
ENST00000567188.5:c.5880+783_5881-870del	ENSP00000456649.1:n.5880+783_5881-870del
ENST00000568917.1:c.1035+783_1036-870del	ENSP00000454611.1:n.1035+783_1036-870del
ENST00000569240.5:c.5880+783_5881-870del	ENSP00000455635.1:n.5880+783_5881-870del
NM_001265612.1:c.5880+783_5881-870del	NP_001252541.1:n.5880+783_5881-870del
NM_016284.4:c.5895+783_5896-870del	NP_057368.3:n.5895+783_5896-870del
NR_049763.1:n.6213+783_6214-870del
NM_016284.5:c.5895+783_5896-870del MANE Select	NP_057368.3:n.5895+783_5896-870del
NM_001265612.2:c.5880+783_5881-870del	NP_001252541.1:n.5880+783_5881-870del
NR_049763.2:n.6153+783_6154-870del