Canonical Allele Identifier: CA2646916301

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264395-C-CCCCACCAGCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264395_109264396insCCCACCAGCAG , CM000663.2:g.109264395_109264396insCCCACCAGCAG	GRCh38
NC_000001.10:g.109807017_109807018insCCCACCAGCAG , CM000663.1:g.109807017_109807018insCCCACCAGCAG	GRCh37
NC_000001.9:g.109608540_109608541insCCCACCAGCAG	NCBI36
NG_052669.1:g.19691_19692insCCCACCAGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+30_5289+31insCCCACCAGCAG MANE Select	ENSP00000271332.3:n.5289+30_5289+31insCCCACCAGCAG
ENST00000271332.3:c.5289+30_5289+31insCCCACCAGCAG	ENSP00000271332.3:n.5289+30_5289+31insCCCACCAGCAG
NM_001408.2:c.5289+30_5289+31insCCCACCAGCAG	NP_001399.1:n.5289+30_5289+31insCCCACCAGCAG
XM_005270580.3:c.5289+30_5289+31insCCCACCAGCAG	XP_005270637.1:n.5289+30_5289+31insCCCACCAGCAG
NM_001408.3:c.5289+30_5289+31insCCCACCAGCAG MANE Select	NP_001399.1:n.5289+30_5289+31insCCCACCAGCAG