Canonical Allele Identifier: CA2646916188

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264385-C-CCCCCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264385_109264386insCCCCCA , CM000663.2:g.109264385_109264386insCCCCCA	GRCh38
NC_000001.10:g.109807007_109807008insCCCCCA , CM000663.1:g.109807007_109807008insCCCCCA	GRCh37
NC_000001.9:g.109608530_109608531insCCCCCA	NCBI36
NG_052669.1:g.19681_19682insCCCCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+20_5289+21insCCCCCA MANE Select	ENSP00000271332.3:n.5289+20_5289+21insCCCCCA
ENST00000271332.3:c.5289+20_5289+21insCCCCCA	ENSP00000271332.3:n.5289+20_5289+21insCCCCCA
NM_001408.2:c.5289+20_5289+21insCCCCCA	NP_001399.1:n.5289+20_5289+21insCCCCCA
XM_005270580.3:c.5289+20_5289+21insCCCCCA	XP_005270637.1:n.5289+20_5289+21insCCCCCA
NM_001408.3:c.5289+20_5289+21insCCCCCA MANE Select	NP_001399.1:n.5289+20_5289+21insCCCCCA