Canonical Allele Identifier: CA2646916282

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264394-C-CACCCCCCCCACCAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264394_109264395insACCCCCCCCACCAGCA , CM000663.2:g.109264394_109264395insACCCCCCCCACCAGCA	GRCh38
NC_000001.10:g.109807016_109807017insACCCCCCCCACCAGCA , CM000663.1:g.109807016_109807017insACCCCCCCCACCAGCA	GRCh37
NC_000001.9:g.109608539_109608540insACCCCCCCCACCAGCA	NCBI36
NG_052669.1:g.19690_19691insACCCCCCCCACCAGCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+29_5289+30insACCCCCCCCACCAGCA MANE Select	ENSP00000271332.3:n.5289+29_5289+30insACCCCCCCCACCAGCA
ENST00000271332.3:c.5289+29_5289+30insACCCCCCCCACCAGCA	ENSP00000271332.3:n.5289+29_5289+30insACCCCCCCCACCAGCA
NM_001408.2:c.5289+29_5289+30insACCCCCCCCACCAGCA	NP_001399.1:n.5289+29_5289+30insACCCCCCCCACCAGCA
XM_005270580.3:c.5289+29_5289+30insACCCCCCCCACCAGCA	XP_005270637.1:n.5289+29_5289+30insACCCCCCCCACCAGCA
NM_001408.3:c.5289+29_5289+30insACCCCCCCCACCAGCA MANE Select	NP_001399.1:n.5289+29_5289+30insACCCCCCCCACCAGCA