Canonical Allele Identifier: CA2646916230

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264389-C-CCAACCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264389_109264390insCAACCCA , CM000663.2:g.109264389_109264390insCAACCCA	GRCh38
NC_000001.10:g.109807011_109807012insCAACCCA , CM000663.1:g.109807011_109807012insCAACCCA	GRCh37
NC_000001.9:g.109608534_109608535insCAACCCA	NCBI36
NG_052669.1:g.19685_19686insCAACCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+24_5289+25insCAACCCA MANE Select	ENSP00000271332.3:n.5289+24_5289+25insCAACCCA
ENST00000271332.3:c.5289+24_5289+25insCAACCCA	ENSP00000271332.3:n.5289+24_5289+25insCAACCCA
NM_001408.2:c.5289+24_5289+25insCAACCCA	NP_001399.1:n.5289+24_5289+25insCAACCCA
XM_005270580.3:c.5289+24_5289+25insCAACCCA	XP_005270637.1:n.5289+24_5289+25insCAACCCA
NM_001408.3:c.5289+24_5289+25insCAACCCA MANE Select	NP_001399.1:n.5289+24_5289+25insCAACCCA