Canonical Allele Identifier: CA832638545
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1312220800
gnomAD v3: 7-1234081-C-CG
gnomAD v4: 7-1234081-C-CG

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234081_1234082insG , CM000669.2:g.1234081_1234082insG GRCh38
NC_000007.13:g.1273717_1273718insG , CM000669.1:g.1273717_1273718insG GRCh37
NC_000007.12:g.1240243_1240244insG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000316333.9:c.450+386_450+387insG MANE Select ENSP00000314480.8:n.450+386_450+387insG
ENST00000316333.8:c.450+386_450+387insG ENSP00000314480.8:n.450+386_450+387insG
NM_001080461.1:c.450+386_450+387insG NP_001073930.1:n.450+386_450+387insG
NM_001080461.2:c.450+386_450+387insG NP_001073930.1:n.450+386_450+387insG
NM_001080461.3:c.450+386_450+387insG MANE Select NP_001073930.1:n.450+386_450+387insG