Canonical Allele Identifier: CA175015

Gene: CKAP2L

Linked Data

• ClinVar Variation Id: 162388
• ClinVar RCV Id: RCV000149783
• dbSNP Id: rs1553442237
• MyVariant Identifiers: chr2:g.113514463_113514791del (hg19) ; chr2:g.112756886_112757214del (hg38)
• PubMed: PMID:25439729

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756887_112757215del , CM000664.2:g.112756887_112757215del	GRCh38
NC_000002.11:g.113514464_113514792del , CM000664.1:g.113514464_113514792del	GRCh37
NC_000002.10:g.113230935_113231263del	NCBI36
NG_041820.1:g.12464_12792del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.157_485del
ENST00000302450.10:c.157_485del
ENST00000435431.5:c.157_478+7del
ENST00000481732.5:n.177-59_446del
NM_001304361.1:c.-280-59_-11del
NM_152515.4:c.157_485del
NR_130712.1:n.236_557+7del
XM_011510666.1:c.-339_-11del
XM_011510666.2:c.-339_-11del
NM_152515.5:c.157_485del
NM_001304361.2:c.-280-59_-11del
NR_130712.2:n.168_489+7del