Canonical Allele Identifier: CA2646916017

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264213-GGCCAT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264219_109264223del , CM000663.2:g.109264219_109264223del	GRCh38
NC_000001.10:g.109806841_109806845del , CM000663.1:g.109806841_109806845del	GRCh37
NC_000001.9:g.109608364_109608368del	NCBI36
NG_052669.1:g.19515_19519del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5143_5147del MANE Select	ENSP00000271332.3:p.Ala1715SerfsTer?
ENST00000271332.3:c.5143_5147del	ENSP00000271332.3:p.Ala1715SerfsTer?
NM_001408.2:c.5143_5147del	NP_001399.1:p.Ala1715SerfsTer?
XM_005270580.3:c.5143_5147del	XP_005270637.1:p.Ala1715SerfsTer?
NM_001408.3:c.5143_5147del MANE Select	NP_001399.1:p.Ala1715SerfsTer?