Canonical Allele Identifier: CA1139770940

Gene: CKAP2L

Linked Data

• ClinVar Variation Id: 1324082
• ClinVar RCV Id: RCV001780787
• dbSNP Id: rs2104884982

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756870del , CM000664.2:g.112756870del	GRCh38
NC_000002.11:g.113514447del , CM000664.1:g.113514447del	GRCh37
NC_000002.10:g.113230918del	NCBI36
NG_041820.1:g.12808del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.501del MANE Select	ENSP00000305204.6:p.Asn167LysfsTer14
ENST00000302450.10:c.501del	ENSP00000305204.6:p.Asn167LysfsTer14
ENST00000435431.5:c.478+23del	ENSP00000414834.1:n.478+23del
ENST00000481732.5:n.462del
NM_001304361.1:c.6del	NP_001291290.1:p.Asn2LysfsTer14
NM_152515.4:c.501del	NP_689728.3:p.Asn167LysfsTer14
NR_130712.1:n.557+23del
XM_011510666.1:c.6del	XP_011508968.1:p.Asn2LysfsTer14
XM_011510666.2:c.6del	XP_011508968.1:p.Asn2LysfsTer14
NM_152515.5:c.501del MANE Select	NP_689728.3:p.Asn167LysfsTer14
NM_001304361.2:c.6del	NP_001291290.1:p.Asn2LysfsTer14
NR_130712.2:n.489+23del