Canonical Allele Identifier: CA5729088

Gene: CUZD1

Linked Data

• ClinVar Variation Id: 402576
• ClinVar RCV Id: RCV000455414
• dbSNP Id: rs11365591
• ExAC: 10:124595874 GAA / G
• gnomAD v2: 10-124595874-GAA-G
• gnomAD v3: 10-122836358-GAA-G
• gnomAD v4: 10-122836358-GAA-G
• MyVariant Identifiers: chr10:g.124595878_124595879del (hg19) ; chr10:g.124595877_124595878del (hg19) ; chr10:g.124595875_124595876del (hg19) ; chr10:g.122836361_122836362del (hg38) ; chr10:g.122836359_122836360del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.122836373_122836374del , CM000672.2:g.122836373_122836374del	GRCh38
NC_000010.10:g.124595889_124595890del , CM000672.1:g.124595889_124595890del	GRCh37
NC_000010.9:g.124585879_124585880del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000368904.6:c.818-10_818-9del	ENSP00000357900.2:n.818-10_818-9del
ENST00000392790.6:c.818-10_818-9del MANE Select	ENSP00000376540.1:n.818-10_818-9del
ENST00000650744.1:c.669-10_669-9del	ENSP00000498967.1:n.669-10_669-9del
ENST00000338948.3:c.83-1263_83-1262del	ENSP00000340905.4:n.83-1263_83-1262del
ENST00000368899.5:n.931-10_931-9del
ENST00000368900.5:c.*359-10_*359-9del	ENSP00000357896.2:n.*359-10_*359-9del
ENST00000368901.5:c.*508-10_*508-9del	ENSP00000357897.2:n.*508-10_*508-9del
ENST00000368904.5:c.818-10_818-9del	ENSP00000357900.1:n.818-10_818-9del
ENST00000392790.5:c.818-10_818-9del	ENSP00000376540.1:n.818-10_818-9del
ENST00000545804.2:c.65-10_65-9del	ENSP00000441590.2:n.65-10_65-9del
NM_022034.5:c.818-10_818-9del	NP_071317.2:n.818-10_818-9del
NR_037912.1:n.999-10_999-9del
NR_037915.1:n.1494-10_1494-9del
NM_022034.6:c.818-10_818-9del MANE Select	NP_071317.2:n.818-10_818-9del
NR_037912.2:n.681-10_681-9del