Canonical Allele Identifier: CA2660743731
Gene: CKAP2L HGNC NCBI

Linked Data

gnomAD v4: 2-112756656-CT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756659del , CM000664.2:g.112756659del GRCh38
NC_000002.11:g.113514236del , CM000664.1:g.113514236del GRCh37
NC_000002.10:g.113230707del NCBI36
NG_041820.1:g.13021del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.714del MANE Select ENSP00000305204.6:p.Asp239IlefsTer18
ENST00000302450.10:c.714del ENSP00000305204.6:p.Asp239IlefsTer18
ENST00000435431.5:c.478+236del ENSP00000414834.1:n.478+236del
NM_001304361.1:c.219del NP_001291290.1:p.Asp74IlefsTer18
NM_152515.4:c.714del NP_689728.3:p.Asp239IlefsTer18
NR_130712.1:n.557+236del
XM_011510666.1:c.219del XP_011508968.1:p.Asp74IlefsTer18
XM_011510666.2:c.219del XP_011508968.1:p.Asp74IlefsTer18
NM_152515.5:c.714del MANE Select NP_689728.3:p.Asp239IlefsTer18
NM_001304361.2:c.219del NP_001291290.1:p.Asp74IlefsTer18
NR_130712.2:n.489+236del
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