Canonical Allele Identifier: CA2646916153

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264382-G-GGCCACCCCAACCCCC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264382_109264383insGCCACCCCAACCCCC , CM000663.2:g.109264382_109264383insGCCACCCCAACCCCC	GRCh38
NC_000001.10:g.109807004_109807005insGCCACCCCAACCCCC , CM000663.1:g.109807004_109807005insGCCACCCCAACCCCC	GRCh37
NC_000001.9:g.109608527_109608528insGCCACCCCAACCCCC	NCBI36
NG_052669.1:g.19678_19679insGCCACCCCAACCCCC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+17_5289+18insGCCACCCCAACCCCC MANE Select	ENSP00000271332.3:n.5289+17_5289+18insGCCACCCCAACCCCC
ENST00000271332.3:c.5289+17_5289+18insGCCACCCCAACCCCC	ENSP00000271332.3:n.5289+17_5289+18insGCCACCCCAACCCCC
NM_001408.2:c.5289+17_5289+18insGCCACCCCAACCCCC	NP_001399.1:n.5289+17_5289+18insGCCACCCCAACCCCC
XM_005270580.3:c.5289+17_5289+18insGCCACCCCAACCCCC	XP_005270637.1:n.5289+17_5289+18insGCCACCCCAACCCCC
NM_001408.3:c.5289+17_5289+18insGCCACCCCAACCCCC MANE Select	NP_001399.1:n.5289+17_5289+18insGCCACCCCAACCCCC