Canonical Allele Identifier: CA2573134259

Gene: CERKL

Linked Data

• ClinVar Variation Id: 1414997
• ClinVar RCV Id: RCV001945437
• dbSNP Id: rs2105820158

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558641_181558642delinsAT , CM000664.2:g.181558641_181558642delinsAT	GRCh38
NC_000002.11:g.182423368_182423369delinsAT , CM000664.1:g.182423368_182423369delinsAT	GRCh37
NC_000002.10:g.182131613_182131614delinsAT	NCBI36
NG_021178.1:g.103466_103467delinsAT
NG_021178.2:g.103466_103467delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.-13_-12delinsAT	ENSP00000508396.1:n.-13_-12delinsAT
ENST00000410087.8:c.744_745delinsAT MANE Select	ENSP00000386725.3:p.Gln249Ter
ENST00000339098.9:c.822_823delinsAT	ENSP00000341159.5:p.Gln275Ter
ENST00000374967.6:c.680_681delinsAT	ENSP00000364106.2:n.680_681delinsAT
ENST00000374969.6:c.482-8934_482-8933delinsAT	ENSP00000364108.2:n.482-8934_482-8933delinsAT
ENST00000374970.6:c.614-8934_614-8933delinsAT	ENSP00000364109.2:n.614-8934_614-8933delinsAT
ENST00000409440.7:c.690_691delinsAT	ENSP00000387080.3:p.Gln231Ter
ENST00000410087.7:c.744_745delinsAT	ENSP00000386725.3:p.Gln249Ter
ENST00000421817.5:c.*26_*27delinsAT	ENSP00000411466.1:n.*26_*27delinsAT
ENST00000452174.5:c.548_549delinsAT	ENSP00000409198.1:n.548_549delinsAT
ENST00000479558.5:n.742_743delinsAT
ENST00000494398.5:n.744_745delinsAT
NM_001030311.2:c.822_823delinsAT	NP_001025482.1:p.Gln275Ter
NM_001030312.2:c.482-8934_482-8933delinsAT	NP_001025483.1:n.482-8934_482-8933delinsAT
NM_001030313.2:c.614-8934_614-8933delinsAT	NP_001025484.1:n.614-8934_614-8933delinsAT
NM_001160277.1:c.690_691delinsAT	NP_001153749.1:p.Gln231Ter
NM_201548.4:c.744_745delinsAT	NP_963842.1:p.Gln249Ter
NR_027689.1:n.649_650delinsAT
NR_027690.1:n.781_782delinsAT
NM_201548.5:c.744_745delinsAT MANE Select	NP_963842.1:p.Gln249Ter
NM_001030311.3:c.822_823delinsAT	NP_001025482.1:p.Gln275Ter
NM_001030312.3:c.482-8934_482-8933delinsAT	NP_001025483.1:n.482-8934_482-8933delinsAT
NM_001030313.3:c.614-8934_614-8933delinsAT	NP_001025484.1:n.614-8934_614-8933delinsAT
NM_001160277.2:c.690_691delinsAT	NP_001153749.1:p.Gln231Ter
NR_027689.2:n.647_648delinsAT
NR_027690.2:n.779_780delinsAT