Canonical Allele Identifier: CA2590813613
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1778694634
gnomAD v3: 7-1234070-A-ACGGGG
gnomAD v4: 7-1234070-A-ACGGGG
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234070_1234071insCGGGG , CM000669.2:g.1234070_1234071insCGGGG GRCh38
NC_000007.13:g.1273706_1273707insCGGGG , CM000669.1:g.1273706_1273707insCGGGG GRCh37
NC_000007.12:g.1240232_1240233insCGGGG NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+375_450+376insCGGGG MANE Select ENSP00000314480.8:n.450+375_450+376insCGG...
ENST00000316333.8:c.450+375_450+376insCGGGG ENSP00000314480.8:n.450+375_450+376insCGG...
NM_001080461.1:c.450+375_450+376insCGGGG NP_001073930.1:n.450+375_450+376insCGGGG
NM_001080461.2:c.450+375_450+376insCGGGG NP_001073930.1:n.450+375_450+376insCGGGG
NM_001080461.3:c.450+375_450+376insCGGGG MANE Select NP_001073930.1:n.450+375_450+376insCGGGG
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