Canonical Allele Identifier: CA2660743970

Gene: CKAP2L

Linked Data

• gnomAD v4: 2-112756728-TA-T

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