Canonical Allele Identifier: CA2646916182

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264385-CTCCCATCCCCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264386_109264396del , CM000663.2:g.109264386_109264396del	GRCh38
NC_000001.10:g.109807008_109807018del , CM000663.1:g.109807008_109807018del	GRCh37
NC_000001.9:g.109608531_109608541del	NCBI36
NG_052669.1:g.19682_19692del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+21_5289+31del MANE Select	ENSP00000271332.3:n.5289+21_5289+31del
ENST00000271332.3:c.5289+21_5289+31del	ENSP00000271332.3:n.5289+21_5289+31del
NM_001408.2:c.5289+21_5289+31del	NP_001399.1:n.5289+21_5289+31del
XM_005270580.3:c.5289+21_5289+31del	XP_005270637.1:n.5289+21_5289+31del
NM_001408.3:c.5289+21_5289+31del MANE Select	NP_001399.1:n.5289+21_5289+31del