Canonical Allele Identifier: CA2660743970
Gene: CKAP2L HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.112756729del , CM000664.2:g.112756729del GRCh38
NC_000002.11:g.113514306del , CM000664.1:g.113514306del GRCh37
NC_000002.10:g.113230777del NCBI36
NG_041820.1:g.12949del

Transcript Alleles

HGVS Amino-acid Change
ENST00000302450.11:c.642del MANE Select ENSP00000305204.6:p.Tyr214Ter
ENST00000302450.10:c.642del ENSP00000305204.6:p.Tyr214Ter
ENST00000435431.5:c.478+164del ENSP00000414834.1:n.478+164del
NM_001304361.1:c.147del NP_001291290.1:p.Tyr49Ter
NM_152515.4:c.642del NP_689728.3:p.Tyr214Ter
NR_130712.1:n.557+164del
XM_011510666.1:c.147del XP_011508968.1:p.Tyr49Ter
XM_011510666.2:c.147del XP_011508968.1:p.Tyr49Ter
NM_152515.5:c.642del MANE Select NP_689728.3:p.Tyr214Ter
NM_001304361.2:c.147del NP_001291290.1:p.Tyr49Ter
NR_130712.2:n.489+164del