Canonical Allele Identifier: CA2646916247

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264390-A-AACCCCCCCCCCCCCCCCACCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264390_109264391insACCCCCCCCCCCCCCCCACCCC , CM000663.2:g.109264390_109264391insACCCCCCCCCCCCCCCCACCCC	GRCh38
NC_000001.10:g.109807012_109807013insACCCCCCCCCCCCCCCCACCCC , CM000663.1:g.109807012_109807013insACCCCCCCCCCCCCCCCACCCC	GRCh37
NC_000001.9:g.109608535_109608536insACCCCCCCCCCCCCCCCACCCC	NCBI36
NG_052669.1:g.19686_19687insACCCCCCCCCCCCCCCCACCCC

Transcript Alleles

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