Canonical Allele Identifier: CA535595878

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1558762391
• gnomAD v2: 2-113514429-GT-G
• gnomAD v3: 2-112756852-GT-G
• gnomAD v4: 2-112756852-GT-G
• MyVariant Identifiers: chr2:g.113514430del (hg19) ; chr2:g.112756853del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756856del , CM000664.2:g.112756856del	GRCh38
NC_000002.11:g.113514433del , CM000664.1:g.113514433del	GRCh37
NC_000002.10:g.113230904del	NCBI36
NG_041820.1:g.12825del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.518del MANE Select	ENSP00000305204.6:p.Asn173ThrfsTer8
ENST00000302450.10:c.518del	ENSP00000305204.6:p.Asn173ThrfsTer8
ENST00000435431.5:c.478+40del	ENSP00000414834.1:n.478+40del
ENST00000481732.5:n.479del
NM_001304361.1:c.23del	NP_001291290.1:p.Asn8ThrfsTer8
NM_152515.4:c.518del	NP_689728.3:p.Asn173ThrfsTer8
NR_130712.1:n.557+40del
XM_011510666.1:c.23del	XP_011508968.1:p.Asn8ThrfsTer8
XM_011510666.2:c.23del	XP_011508968.1:p.Asn8ThrfsTer8
NM_152515.5:c.518del MANE Select	NP_689728.3:p.Asn173ThrfsTer8
NM_001304361.2:c.23del	NP_001291290.1:p.Asn8ThrfsTer8
NR_130712.2:n.489+40del