Canonical Allele Identifier: CA520716329

Gene: CCDC27

Linked Data

• dbSNP Id: rs1557627420
• gnomAD v2: 1-3680279-CG-C
• gnomAD v4: 1-3763715-CG-C
• MyVariant Identifiers: chr1:g.3680280del (hg19) ; chr1:g.3763716del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.3763716del , CM000663.2:g.3763716del	GRCh38
NC_000001.10:g.3680280del , CM000663.1:g.3680280del	GRCh37
NC_000001.9:g.3670140del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000294600.7:c.1332del MANE Select	ENSP00000294600.2:p.Ser445LeufsTer?
ENST00000294600.6:c.1332del	ENSP00000294600.2:p.Ser445LeufsTer?
ENST00000462521.2:c.*845del	ENSP00000463275.1:n.*845del
NM_152492.2:c.1332del	NP_689705.2:p.Ser445LeufsTer?
XM_011540780.1:c.1332del	XP_011539082.1:p.Ser445LeufsTer?
XM_011540781.1:c.1332del	XP_011539083.1:p.Ser445LeufsTer?
XM_011540782.1:c.1332del	XP_011539084.1:p.Ser445LeufsTer?
XM_011540783.1:c.978del	XP_011539085.1:p.Ser327LeufsTer?
XR_946553.1:n.1416del
XR_946554.1:n.1416del
XM_017000402.1:c.1563del	XP_016855891.1:p.Ser522LeufsTer?
XM_017000403.1:c.1563del	XP_016855892.1:p.Ser522LeufsTer?
XM_017000404.2:c.1563del	XP_016855893.1:p.Ser522LeufsTer?
XM_017000405.1:c.1563del	XP_016855894.1:p.Ser522LeufsTer?
XM_017000406.1:c.1209del	XP_016855895.1:p.Ser404LeufsTer?
XR_001736991.1:n.1647del
XR_001736992.1:n.1647del
NM_152492.3:c.1332del MANE Select	NP_689705.2:p.Ser445LeufsTer?