Canonical Allele Identifier: CA1682451522
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1778693731

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234041_1234042insAGAGGCGAGGAGGGGA , CM000669.2:g.1234041_1234042insAGAGGCGAGGAGGGGA GRCh38
NC_000007.13:g.1273677_1273678insAGAGGCGAGGAGGGGA , CM000669.1:g.1273677_1273678insAGAGGCGAGGAGGGGA GRCh37
NC_000007.12:g.1240203_1240204insAGAGGCGAGGAGGGGA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316333.9:c.450+346_450+347insAGAGGCGAGGAGGGGA MANE Select ENSP00000314480.8:n.450+346_450+347insAGAGGCGAGGAGGGGA
ENST00000316333.8:c.450+346_450+347insAGAGGCGAGGAGGGGA ENSP00000314480.8:n.450+346_450+347insAGAGGCGAGGAGGGGA
NM_001080461.1:c.450+346_450+347insAGAGGCGAGGAGGGGA NP_001073930.1:n.450+346_450+347insAGAGGCGAGGAGGGGA
NM_001080461.2:c.450+346_450+347insAGAGGCGAGGAGGGGA NP_001073930.1:n.450+346_450+347insAGAGGCGAGGAGGGGA
NM_001080461.3:c.450+346_450+347insAGAGGCGAGGAGGGGA MANE Select NP_001073930.1:n.450+346_450+347insAGAGGCGAGGAGGGGA