Canonical Allele Identifier: CA2646916257

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264390-A-AACCCAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264390_109264391insACCCAC , CM000663.2:g.109264390_109264391insACCCAC	GRCh38
NC_000001.10:g.109807012_109807013insACCCAC , CM000663.1:g.109807012_109807013insACCCAC	GRCh37
NC_000001.9:g.109608535_109608536insACCCAC	NCBI36
NG_052669.1:g.19686_19687insACCCAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+25_5289+26insACCCAC MANE Select	ENSP00000271332.3:n.5289+25_5289+26insACCCAC
ENST00000271332.3:c.5289+25_5289+26insACCCAC	ENSP00000271332.3:n.5289+25_5289+26insACCCAC
NM_001408.2:c.5289+25_5289+26insACCCAC	NP_001399.1:n.5289+25_5289+26insACCCAC
XM_005270580.3:c.5289+25_5289+26insACCCAC	XP_005270637.1:n.5289+25_5289+26insACCCAC
NM_001408.3:c.5289+25_5289+26insACCCAC MANE Select	NP_001399.1:n.5289+25_5289+26insACCCAC