Canonical Allele Identifier: CA203778

Gene: CILK1

Linked Data

• ClinVar Variation Id: 199140
• ClinVar RCV Id: RCV000180654 ; RCV000513685 ; RCV003982932
• dbSNP Id: rs200780900
• ExAC: 6:52880875 GA / G
• gnomAD v2: 6-52880875-GA-G
• gnomAD v3: 6-53016077-GA-G
• gnomAD v4: 6-53016077-GA-G
• MyVariant Identifiers: chr6:g.52880876del (hg19) ; chr6:g.53016079del (hg38) ; chr6:g.53016078del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.53016081del , CM000668.2:g.53016081del	GRCh38
NC_000006.11:g.52880879del , CM000668.1:g.52880879del	GRCh37
NC_000006.10:g.52988838del	NCBI36
NG_012159.1:g.50725del
NG_012159.2:g.50725del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000350082.10:c.831+5del	ENSP00000263043.8:n.831+5del
ENST00000676107.1:c.831+5del MANE Select	ENSP00000501692.1:n.831+5del
ENST00000350082.9:c.831+5del	ENSP00000263043.7:n.831+5del
ENST00000356971.3:c.831+5del	ENSP00000349458.3:n.831+5del
NM_014920.3:c.831+5del	NP_055735.1:n.831+5del
NM_016513.4:c.831+5del	NP_057597.2:n.831+5del
XM_011514419.1:c.831+5del	XP_011512721.1:n.831+5del
XM_011514420.1:c.831+5del	XP_011512722.1:n.831+5del
XM_011514421.1:c.831+5del	XP_011512723.1:n.831+5del
XM_011514420.2:c.831+5del	XP_011512722.1:n.831+5del
XM_017010485.1:c.831+5del	XP_016865974.1:n.831+5del
XM_017010486.1:c.831+5del	XP_016865975.1:n.831+5del
XM_017010487.1:c.831+5del	XP_016865976.1:n.831+5del
XM_017010488.1:c.831+5del	XP_016865977.1:n.831+5del
XM_017010489.1:c.831+5del	XP_016865978.1:n.831+5del
XM_017010490.1:c.831+5del	XP_016865979.1:n.831+5del
XM_017010491.1:c.831+5del	XP_016865980.1:n.831+5del
XM_017010492.1:c.831+5del	XP_016865981.1:n.831+5del
NM_001375397.1:c.831+5del	NP_001362326.1:n.831+5del
NM_001375398.1:c.831+5del	NP_001362327.1:n.831+5del
NM_001375399.1:c.831+5del	NP_001362328.1:n.831+5del
NM_001375400.1:c.831+5del	NP_001362329.1:n.831+5del
NM_001375401.1:c.831+5del	NP_001362330.1:n.831+5del
NM_001375402.1:c.831+5del	NP_001362331.1:n.831+5del
NM_014920.5:c.831+5del MANE Select	NP_055735.1:n.831+5del
NM_016513.5:c.831+5del	NP_057597.2:n.831+5del
NR_164684.1:n.1232+5del