Canonical Allele Identifier: CA535595873

Gene: CKAP2L

Linked Data

• dbSNP Id: rs1157584587
• gnomAD v2: 2-113514080-GAACTTTACTA-G
• gnomAD v3: 2-112756503-GAACTTTACTA-G
• gnomAD v4: 2-112756503-GAACTTTACTA-G
• MyVariant Identifiers: chr2:g.113514081_113514090del (hg19) ; chr2:g.112756504_112756513del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756505_112756514del , CM000664.2:g.112756505_112756514del	GRCh38
NC_000002.11:g.113514082_113514091del , CM000664.1:g.113514082_113514091del	GRCh37
NC_000002.10:g.113230553_113230562del	NCBI36
NG_041820.1:g.13165_13174del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.858_867del MANE Select	ENSP00000305204.6:p.Lys288HisfsTer6
ENST00000302450.10:c.858_867del	ENSP00000305204.6:p.Lys288HisfsTer6
ENST00000435431.5:c.479-379_479-370del	ENSP00000414834.1:n.479-379_479-370del
NM_001304361.1:c.363_372del	NP_001291290.1:p.Lys123HisfsTer6
NM_152515.4:c.858_867del	NP_689728.3:p.Lys288HisfsTer6
NR_130712.1:n.558-379_558-370del
XM_011510666.1:c.363_372del	XP_011508968.1:p.Lys123HisfsTer6
XM_011510666.2:c.363_372del	XP_011508968.1:p.Lys123HisfsTer6
NM_152515.5:c.858_867del MANE Select	NP_689728.3:p.Lys288HisfsTer6
NM_001304361.2:c.363_372del	NP_001291290.1:p.Lys123HisfsTer6
NR_130712.2:n.490-379_490-370del