Canonical Allele Identifier: CA1188035049

Gene: CELSR2

Linked Data

• dbSNP Id: rs1656129403
• gnomAD v4: 1-109264385-CTCCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264390_109264394del , CM000663.2:g.109264390_109264394del	GRCh38
NC_000001.10:g.109807012_109807016del , CM000663.1:g.109807012_109807016del	GRCh37
NC_000001.9:g.109608535_109608539del	NCBI36
NG_052669.1:g.19686_19690del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+25_5289+29del MANE Select	ENSP00000271332.3:n.5289+25_5289+29del
ENST00000271332.3:c.5289+25_5289+29del	ENSP00000271332.3:n.5289+25_5289+29del
NM_001408.2:c.5289+25_5289+29del	NP_001399.1:n.5289+25_5289+29del
XM_005270580.3:c.5289+25_5289+29del	XP_005270637.1:n.5289+25_5289+29del
NM_001408.3:c.5289+25_5289+29del MANE Select	NP_001399.1:n.5289+25_5289+29del