Canonical Allele Identifier: CA1097509548
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1778694634
gnomAD v3: 7-1234070-A-ACGGG
gnomAD v4: 7-1234070-A-ACGGG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234070_1234071insCGGG , CM000669.2:g.1234070_1234071insCGGG GRCh38
NC_000007.13:g.1273706_1273707insCGGG , CM000669.1:g.1273706_1273707insCGGG GRCh37
NC_000007.12:g.1240232_1240233insCGGG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+375_450+376insCGGG MANE Select ENSP00000314480.8:n.450+375_450+376insCGG...
ENST00000316333.8:c.450+375_450+376insCGGG ENSP00000314480.8:n.450+375_450+376insCGG...
NM_001080461.1:c.450+375_450+376insCGGG NP_001073930.1:n.450+375_450+376insCGGG
NM_001080461.2:c.450+375_450+376insCGGG NP_001073930.1:n.450+375_450+376insCGGG
NM_001080461.3:c.450+375_450+376insCGGG MANE Select NP_001073930.1:n.450+375_450+376insCGGG
Search 100 bp 5'
Search 100 bp 3'