Canonical Allele Identifier: CA453410288
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1778694759
gnomAD v2: 7-1273707-A-AG
gnomAD v3: 7-1234071-A-AG
gnomAD v4: 7-1234071-A-AG

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+380dup MANE Select ENSP00000314480.8:n.450+380dup
ENST00000316333.8:c.450+380dup ENSP00000314480.8:n.450+380dup
NM_001080461.1:c.450+380dup NP_001073930.1:n.450+380dup
NM_001080461.2:c.450+380dup NP_001073930.1:n.450+380dup
NM_001080461.3:c.450+380dup MANE Select NP_001073930.1:n.450+380dup