Canonical Allele Identifier: CA2646916131

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264378-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264378_109264379insAAA , CM000663.2:g.109264378_109264379insAAA	GRCh38
NC_000001.10:g.109807000_109807001insAAA , CM000663.1:g.109807000_109807001insAAA	GRCh37
NC_000001.9:g.109608523_109608524insAAA	NCBI36
NG_052669.1:g.19674_19675insAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+13_5289+14insAAA MANE Select	ENSP00000271332.3:n.5289+13_5289+14insAAA
ENST00000271332.3:c.5289+13_5289+14insAAA	ENSP00000271332.3:n.5289+13_5289+14insAAA
NM_001408.2:c.5289+13_5289+14insAAA	NP_001399.1:n.5289+13_5289+14insAAA
XM_005270580.3:c.5289+13_5289+14insAAA	XP_005270637.1:n.5289+13_5289+14insAAA
NM_001408.3:c.5289+13_5289+14insAAA MANE Select	NP_001399.1:n.5289+13_5289+14insAAA