Canonical Allele Identifier: CA221639107

Gene: CKAP5

Linked Data

• dbSNP Id: rs988154621
• gnomAD v3: 11-46827628-GAAA-G
• gnomAD v4: 11-46827628-GAAA-G
• MyVariant Identifiers: chr11:g.46849180_46849182del (hg19) ; chr11:g.46827629_46827631del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46827633_46827635del , CM000673.2:g.46827633_46827635del	GRCh38
NC_000011.9:g.46849184_46849186del , CM000673.1:g.46849184_46849186del	GRCh37
NC_000011.8:g.46805760_46805762del	NCBI36
NG_029924.1:g.23678_23680del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529230.6:c.-37-6363_-37-6361del MANE Select	ENSP00000432768.1:n.-37-6363_-37-6361del
ENST00000312055.9:c.-37-6363_-37-6361del	ENSP00000310227.5:n.-37-6363_-37-6361del
ENST00000525248.1:n.78-6383_78-6381del
ENST00000529230.5:c.-37-6363_-37-6361del	ENSP00000432768.1:n.-37-6363_-37-6361del
NM_001008938.3:c.-37-6363_-37-6361del	NP_001008938.1:n.-37-6363_-37-6361del
NM_014756.3:c.-37-6363_-37-6361del	NP_055571.2:n.-37-6363_-37-6361del
NM_001008938.4:c.-37-6363_-37-6361del MANE Select	NP_001008938.1:n.-37-6363_-37-6361del
NM_014756.4:c.-37-6363_-37-6361del	NP_055571.2:n.-37-6363_-37-6361del