Canonical Allele Identifier: CA453410289
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1584081699
gnomAD v2: 7-1273711-G-GC
gnomAD v3: 7-1234075-G-GC
gnomAD v4: 7-1234075-G-GC

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234075_1234076insC , CM000669.2:g.1234075_1234076insC GRCh38
NC_000007.13:g.1273711_1273712insC , CM000669.1:g.1273711_1273712insC GRCh37
NC_000007.12:g.1240237_1240238insC NCBI36

Transcript Alleles

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