Canonical Allele Identifier: CA2590813617

Gene: UNCX

Linked Data

• gnomAD v3: 7-1234075-G-GGGGGGGC
• gnomAD v4: 7-1234075-G-GGGGGGGC

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1234075_1234076insGGGGGGC , CM000669.2:g.1234075_1234076insGGGGGGC	GRCh38
NC_000007.13:g.1273711_1273712insGGGGGGC , CM000669.1:g.1273711_1273712insGGGGGGC	GRCh37
NC_000007.12:g.1240237_1240238insGGGGGGC	NCBI36

Transcript Alleles

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