Canonical Allele Identifier: CA2660743972

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756798-GAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.112756801_112756802del , CM000664.2:g.112756801_112756802del	GRCh38
NC_000002.11:g.113514378_113514379del , CM000664.1:g.113514378_113514379del	GRCh37
NC_000002.10:g.113230849_113230850del	NCBI36
NG_041820.1:g.12878_12879del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000302450.11:c.571_572del MANE Select	ENSP00000305204.6:p.Ile191LeufsTer5
ENST00000302450.10:c.571_572del	ENSP00000305204.6:p.Ile191LeufsTer5
ENST00000435431.5:c.478+93_478+94del	ENSP00000414834.1:n.478+93_478+94del
ENST00000481732.5:n.532_533del
NM_001304361.1:c.76_77del	NP_001291290.1:p.Ile26LeufsTer5
NM_152515.4:c.571_572del	NP_689728.3:p.Ile191LeufsTer5
NR_130712.1:n.557+93_557+94del
XM_011510666.1:c.76_77del	XP_011508968.1:p.Ile26LeufsTer5
XM_011510666.2:c.76_77del	XP_011508968.1:p.Ile26LeufsTer5
NM_152515.5:c.571_572del MANE Select	NP_689728.3:p.Ile191LeufsTer5
NM_001304361.2:c.76_77del	NP_001291290.1:p.Ile26LeufsTer5
NR_130712.2:n.489+93_489+94del