Canonical Allele Identifier: CA10586283

Gene: ORC6

Linked Data

• ClinVar Variation Id: 253274
• ClinVar RCV Id: RCV000239709
• dbSNP Id: rs879255692
• MyVariant Identifiers: chr16:g.46729968_46729971del (hg19) ; chr16:g.46696056_46696059del (hg38)
• PubMed: PMID:17256795 ; PMID:25691413

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.46696056_46696059del , CM000678.2:g.46696056_46696059del	GRCh38
NC_000016.9:g.46729968_46729971del , CM000678.1:g.46729968_46729971del	GRCh37
NC_000016.8:g.45287469_45287472del	NCBI36
NG_028241.1:g.11411_11414del

Transcript Alleles

HGVS	Amino-acid change
ENST00000219097.7:c.602_605del MANE Select	ENSP00000219097.2:p.Lys201ArgfsTer2
ENST00000219097.6:c.602_605del	ENSP00000219097.2:p.Lys201ArgfsTer2
ENST00000563306.5:n.1027_1030del
ENST00000563599.5:c.*424_*427del	ENSP00000454299.1:n.*424_*427del
ENST00000566860.1:c.455_458del	ENSP00000456981.1:p.Lys152ArgfsTer2
ENST00000567000.2:n.606_609del
ENST00000568364.6:c.489_492del	ENSP00000457282.2:p.Glu164IlefsTer?
ENST00000575571.5:n.301_304del
NM_014321.3:c.602_605del	NP_055136.1:p.Lys201ArgfsTer2
NR_037620.1:n.721_724del
NM_014321.4:c.602_605del MANE Select	NP_055136.1:p.Lys201ArgfsTer2
NR_037620.2:n.708_711del