Canonical Allele Identifier: CA2646916250

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264390-A-AACCCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264390_109264391insACCCCCCCCCCCCC , CM000663.2:g.109264390_109264391insACCCCCCCCCCCCC	GRCh38
NC_000001.10:g.109807012_109807013insACCCCCCCCCCCCC , CM000663.1:g.109807012_109807013insACCCCCCCCCCCCC	GRCh37
NC_000001.9:g.109608535_109608536insACCCCCCCCCCCCC	NCBI36
NG_052669.1:g.19686_19687insACCCCCCCCCCCCC

Transcript Alleles

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