Canonical Allele Identifier: CA2660743971

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756730-TAAG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756732_112756734del , CM000664.2:g.112756732_112756734del	GRCh38
NC_000002.11:g.113514309_113514311del , CM000664.1:g.113514309_113514311del	GRCh37
NC_000002.10:g.113230780_113230782del	NCBI36
NG_041820.1:g.12945_12947del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.638_640del MANE Select	ENSP00000305204.6:p.Ser213del
ENST00000302450.10:c.638_640del	ENSP00000305204.6:p.Ser213del
ENST00000435431.5:c.478+160_478+162del	ENSP00000414834.1:n.478+160_478+162del
NM_001304361.1:c.143_145del	NP_001291290.1:p.Ser48del
NM_152515.4:c.638_640del	NP_689728.3:p.Ser213del
NR_130712.1:n.557+160_557+162del
XM_011510666.1:c.143_145del	XP_011508968.1:p.Ser48del
XM_011510666.2:c.143_145del	XP_011508968.1:p.Ser48del
NM_152515.5:c.638_640del MANE Select	NP_689728.3:p.Ser213del
NM_001304361.2:c.143_145del	NP_001291290.1:p.Ser48del
NR_130712.2:n.489+160_489+162del