Canonical Allele Identifier: CA937616553

Gene: CKAP5

Linked Data

• dbSNP Id: rs1939687267
• gnomAD v3: 11-46827701-GTAAA-G
• gnomAD v4: 11-46827701-GTAAA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.46827707_46827710del , CM000673.2:g.46827707_46827710del	GRCh38
NC_000011.9:g.46849258_46849261del , CM000673.1:g.46849258_46849261del	GRCh37
NC_000011.8:g.46805834_46805837del	NCBI36
NG_029924.1:g.23604_23607del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000529230.6:c.-37-6437_-37-6434del MANE Select	ENSP00000432768.1:n.-37-6437_-37-6434del
ENST00000312055.9:c.-37-6437_-37-6434del	ENSP00000310227.5:n.-37-6437_-37-6434del
ENST00000525248.1:n.78-6457_78-6454del
ENST00000529230.5:c.-37-6437_-37-6434del	ENSP00000432768.1:n.-37-6437_-37-6434del
NM_001008938.3:c.-37-6437_-37-6434del	NP_001008938.1:n.-37-6437_-37-6434del
NM_014756.3:c.-37-6437_-37-6434del	NP_055571.2:n.-37-6437_-37-6434del
NM_001008938.4:c.-37-6437_-37-6434del MANE Select	NP_001008938.1:n.-37-6437_-37-6434del
NM_014756.4:c.-37-6437_-37-6434del	NP_055571.2:n.-37-6437_-37-6434del