Canonical Allele Identifier: CA1188035064

Gene: CELSR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264404_109264412delinsCACCTGCAG , CM000663.2:g.109264404_109264412delinsCACCTGCAG	GRCh38
NC_000001.10:g.109807026_109807034delinsCACCTGCAG , CM000663.1:g.109807026_109807034delinsCACCTGCAG	GRCh37
NC_000001.9:g.109608549_109608557delinsCACCTGCAG	NCBI36
NG_052669.1:g.19700_19708delinsCACCTGCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+39_5290-42delinsCACCTGCAG MANE Select	ENSP00000271332.3:n.5289+39_5290-42delinsCACCTGCAG
ENST00000271332.3:c.5289+39_5290-42delinsCACCTGCAG	ENSP00000271332.3:n.5289+39_5290-42delinsCACCTGCAG
NM_001408.2:c.5289+39_5290-42delinsCACCTGCAG	NP_001399.1:n.5289+39_5290-42delinsCACCTGCAG
XM_005270580.3:c.5289+39_5290-42delinsCACCTGCAG	XP_005270637.1:n.5289+39_5290-42delinsCACCTGCAG
NM_001408.3:c.5289+39_5290-42delinsCACCTGCAG MANE Select	NP_001399.1:n.5289+39_5290-42delinsCACCTGCAG