Canonical Allele Identifier: CA175016
Gene: CKAP2L HGNC NCBI

Linked Data

ClinVar Variation Id: 162389
ClinVar RCV Id: RCV000149784
dbSNP Id: rs727502805
ExAC: 2:113514392 CTT / C
gnomAD v2: 2-113514392-CTT-C
gnomAD v3: 2-112756815-CTT-C
gnomAD v4: 2-112756815-CTT-C
MyVariant Identifiers: chr2:g.113514393_113514394del (hg19) chr2:g.113514394_113514396delinsG (hg19) chr2:g.112756817_112756818del (hg38) chr2:g.112756816_112756817del (hg38) chr2:g.112756817_112756819delinsG (hg38)
PubMed: PMID:25439729
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756817_112756818del , CM000664.2:g.112756817_112756818del GRCh38
NC_000002.11:g.113514394_113514395del , CM000664.1:g.113514394_113514395del GRCh37
NC_000002.10:g.113230865_113230866del NCBI36
NG_041820.1:g.12861_12862del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.554_555del MANE Select ENSP00000305204.6:p.Lys185ArgfsTer11
ENST00000302450.10:c.554_555del ENSP00000305204.6:p.Lys185ArgfsTer11
ENST00000435431.5:c.478+76_478+77del ENSP00000414834.1:n.478+76_478+77del
ENST00000481732.5:n.515_516del
NM_001304361.1:c.59_60del NP_001291290.1:p.Lys20ArgfsTer11
NM_152515.4:c.554_555del NP_689728.3:p.Lys185ArgfsTer11
NR_130712.1:n.557+76_557+77del
XM_011510666.1:c.59_60del XP_011508968.1:p.Lys20ArgfsTer11
XM_011510666.2:c.59_60del XP_011508968.1:p.Lys20ArgfsTer11
NM_152515.5:c.554_555del MANE Select NP_689728.3:p.Lys185ArgfsTer11
NM_001304361.2:c.59_60del NP_001291290.1:p.Lys20ArgfsTer11
NR_130712.2:n.489+76_489+77del
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