Canonical Allele Identifier: CA266219

Gene: CERKL

Linked Data

• ClinVar Variation Id: 91394
• ClinVar RCV Id: RCV000076912 ; RCV001236949 ; RCV001723655
• dbSNP Id: rs398122964
• ExAC: 2:182423332 GA / G
• gnomAD v2: 2-182423332-GA-G
• gnomAD v3: 2-181558605-GA-G
• gnomAD v4: 2-181558605-GA-G
• MyVariant Identifiers: chr2:g.182423333del (hg19) ; chr2:g.181558606del (hg38)
• PubMed: PMID:24043777

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558606del , CM000664.2:g.181558606del	GRCh38
NC_000002.11:g.182423333del , CM000664.1:g.182423333del	GRCh37
NC_000002.10:g.182131578del	NCBI36
NG_021178.1:g.103502del
NG_021178.2:g.103502del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.24del	ENSP00000508396.1:p.Pro9LeufsTer10
ENST00000410087.8:c.780del MANE Select	ENSP00000386725.3:p.Pro261LeufsTer10
ENST00000339098.9:c.858del	ENSP00000341159.5:p.Pro287LeufsTer10
ENST00000374967.6:c.716del	ENSP00000364106.2:n.716del
ENST00000374969.6:c.482-8898del	ENSP00000364108.2:n.482-8898del
ENST00000374970.6:c.614-8898del	ENSP00000364109.2:n.614-8898del
ENST00000409440.7:c.726del	ENSP00000387080.3:p.Pro243LeufsTer10
ENST00000410087.7:c.780del	ENSP00000386725.3:p.Pro261LeufsTer10
ENST00000421817.5:c.*62del	ENSP00000411466.1:n.*62del
ENST00000452174.5:c.584del	ENSP00000409198.1:n.584del
ENST00000479558.5:n.778del
ENST00000494398.5:n.780del
NM_001030311.2:c.858del	NP_001025482.1:p.Pro287LeufsTer10
NM_001030312.2:c.482-8898del	NP_001025483.1:n.482-8898del
NM_001030313.2:c.614-8898del	NP_001025484.1:n.614-8898del
NM_001160277.1:c.726del	NP_001153749.1:p.Pro243LeufsTer10
NM_201548.4:c.780del	NP_963842.1:p.Pro261LeufsTer10
NR_027689.1:n.685del
NR_027690.1:n.817del
NM_201548.5:c.780del MANE Select	NP_963842.1:p.Pro261LeufsTer10
NM_001030311.3:c.858del	NP_001025482.1:p.Pro287LeufsTer10
NM_001030312.3:c.482-8898del	NP_001025483.1:n.482-8898del
NM_001030313.3:c.614-8898del	NP_001025484.1:n.614-8898del
NM_001160277.2:c.726del	NP_001153749.1:p.Pro243LeufsTer10
NR_027689.2:n.683del
NR_027690.2:n.815del