Canonical Allele Identifier: CA152421794
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs557989144
gnomAD v2: 7-1273884-GT-G
gnomAD v3: 7-1234248-GT-G
gnomAD v4: 7-1234248-GT-G
MyVariant Identifiers: chr7:g.1273885del (hg19) chr7:g.1234249del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234250del , CM000669.2:g.1234250del GRCh38
NC_000007.13:g.1273886del , CM000669.1:g.1273886del GRCh37
NC_000007.12:g.1240412del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+555del MANE Select ENSP00000314480.8:n.450+555del
ENST00000316333.8:c.450+555del ENSP00000314480.8:n.450+555del
NM_001080461.1:c.450+555del NP_001073930.1:n.450+555del
NM_001080461.2:c.450+555del NP_001073930.1:n.450+555del
NM_001080461.3:c.450+555del MANE Select NP_001073930.1:n.450+555del
Search 100 bp 5'
Search 100 bp 3'