Canonical Allele Identifier: CA572109225

Gene: UNCX

Linked Data

• dbSNP Id: rs1436468504
• gnomAD v2: 7-1273793-TG-T
• gnomAD v3: 7-1234157-TG-T
• gnomAD v4: 7-1234157-TG-T
• MyVariant Identifiers: chr7:g.1273794del (hg19) ; chr7:g.1234158del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.1234158del , CM000669.2:g.1234158del	GRCh38
NC_000007.13:g.1273794del , CM000669.1:g.1273794del	GRCh37
NC_000007.12:g.1240320del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000316333.9:c.450+463del MANE Select	ENSP00000314480.8:n.450+463del
ENST00000316333.8:c.450+463del	ENSP00000314480.8:n.450+463del
NM_001080461.1:c.450+463del	NP_001073930.1:n.450+463del
NM_001080461.2:c.450+463del	NP_001073930.1:n.450+463del
NM_001080461.3:c.450+463del MANE Select	NP_001073930.1:n.450+463del