Canonical Allele Identifier: CA1097509559
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1584081699
gnomAD v3: 7-1234075-G-GT
gnomAD v4: 7-1234075-G-GT

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234075_1234076insT , CM000669.2:g.1234075_1234076insT GRCh38
NC_000007.13:g.1273711_1273712insT , CM000669.1:g.1273711_1273712insT GRCh37
NC_000007.12:g.1240237_1240238insT NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+380_450+381insT MANE Select ENSP00000314480.8:n.450+380_450+381insT
ENST00000316333.8:c.450+380_450+381insT ENSP00000314480.8:n.450+380_450+381insT
NM_001080461.1:c.450+380_450+381insT NP_001073930.1:n.450+380_450+381insT
NM_001080461.2:c.450+380_450+381insT NP_001073930.1:n.450+380_450+381insT
NM_001080461.3:c.450+380_450+381insT MANE Select NP_001073930.1:n.450+380_450+381insT