Canonical Allele Identifier: CA2646916252

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264390-A-AACCCCCCCCCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264390_109264391insACCCCCCCCCCCC , CM000663.2:g.109264390_109264391insACCCCCCCCCCCC	GRCh38
NC_000001.10:g.109807012_109807013insACCCCCCCCCCCC , CM000663.1:g.109807012_109807013insACCCCCCCCCCCC	GRCh37
NC_000001.9:g.109608535_109608536insACCCCCCCCCCCC	NCBI36
NG_052669.1:g.19686_19687insACCCCCCCCCCCC

Transcript Alleles

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