Canonical Allele Identifier: CA832638528
Gene: UNCX HGNC NCBI

Linked Data

dbSNP Id: rs1243120964
gnomAD v3: 7-1234075-GA-G
gnomAD v4: 7-1234075-GA-G
MyVariant Identifiers: chr7:g.1273712del (hg19) chr7:g.1234076del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.1234076del , CM000669.2:g.1234076del GRCh38
NC_000007.13:g.1273712del , CM000669.1:g.1273712del GRCh37
NC_000007.12:g.1240238del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000316333.9:c.450+381del MANE Select ENSP00000314480.8:n.450+381del
ENST00000316333.8:c.450+381del ENSP00000314480.8:n.450+381del
NM_001080461.1:c.450+381del NP_001073930.1:n.450+381del
NM_001080461.2:c.450+381del NP_001073930.1:n.450+381del
NM_001080461.3:c.450+381del MANE Select NP_001073930.1:n.450+381del
Search 100 bp 5'
Search 100 bp 3'