Canonical Allele Identifier: CA1836830

Gene: CKAP2L

Linked Data

• ClinVar Variation Id: 804387
• ClinVar RCV Id: RCV000991366
• dbSNP Id: rs778989224
• ExAC: 2:113514392 CTTTG / C
• gnomAD v2: 2-113514392-CTTTG-C
• gnomAD v4: 2-112756815-CTTTG-C
• MyVariant Identifiers: chr2:g.113514393_113514396del (hg19) ; chr2:g.112756816_112756819del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756823_112756826del , CM000664.2:g.112756823_112756826del	GRCh38
NC_000002.11:g.113514400_113514403del , CM000664.1:g.113514400_113514403del	GRCh37
NC_000002.10:g.113230871_113230874del	NCBI36
NG_041820.1:g.12859_12862del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.552_555del MANE Select	ENSP00000305204.6:p.Asn184LysfsTer8
ENST00000302450.10:c.552_555del	ENSP00000305204.6:p.Asn184LysfsTer8
ENST00000435431.5:c.478+74_478+77del	ENSP00000414834.1:n.478+74_478+77del
ENST00000481732.5:n.513_516del
NM_001304361.1:c.57_60del	NP_001291290.1:p.Asn19LysfsTer8
NM_152515.4:c.552_555del	NP_689728.3:p.Asn184LysfsTer8
NR_130712.1:n.557+74_557+77del
XM_011510666.1:c.57_60del	XP_011508968.1:p.Asn19LysfsTer8
XM_011510666.2:c.57_60del	XP_011508968.1:p.Asn19LysfsTer8
NM_152515.5:c.552_555del MANE Select	NP_689728.3:p.Asn184LysfsTer8
NM_001304361.2:c.57_60del	NP_001291290.1:p.Asn19LysfsTer8
NR_130712.2:n.489+74_489+77del