Canonical Allele Identifier: CA525625996

Gene: CELSR2

Linked Data

• dbSNP Id: rs1399720071
• gnomAD v2: 1-109806481-CAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA-C
• gnomAD v3: 1-109263859-CAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA-C
• gnomAD v4: 1-109263859-CAGGTCCTGGGCAGGGGTGGGGACATATAGAGGCCGCTGGATCCGTTGGGA-C
• MyVariant Identifiers: chr1:g.109806482_109806531del (hg19) ; chr1:g.109263860_109263909del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109263865_109263914del , CM000663.2:g.109263865_109263914del	GRCh38
NC_000001.10:g.109806487_109806536del , CM000663.1:g.109806487_109806536del	GRCh37
NC_000001.9:g.109608010_109608059del	NCBI36
NG_052669.1:g.19161_19210del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5001+88_5001+137del MANE Select	ENSP00000271332.3:n.5001+88_5001+137del
ENST00000271332.3:c.5001+88_5001+137del	ENSP00000271332.3:n.5001+88_5001+137del
NM_001408.2:c.5001+88_5001+137del	NP_001399.1:n.5001+88_5001+137del
XM_005270580.3:c.5001+88_5001+137del	XP_005270637.1:n.5001+88_5001+137del
NM_001408.3:c.5001+88_5001+137del MANE Select	NP_001399.1:n.5001+88_5001+137del