Canonical Allele Identifier: CA2646916276

Gene: CELSR2

Linked Data

• gnomAD v4: 1-109264393-C-CCA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264394_109264395insAC , CM000663.2:g.109264394_109264395insAC	GRCh38
NC_000001.10:g.109807016_109807017insAC , CM000663.1:g.109807016_109807017insAC	GRCh37
NC_000001.9:g.109608539_109608540insAC	NCBI36
NG_052669.1:g.19690_19691insAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+29_5289+30insAC MANE Select	ENSP00000271332.3:n.5289+29_5289+30insAC
ENST00000271332.3:c.5289+29_5289+30insAC	ENSP00000271332.3:n.5289+29_5289+30insAC
NM_001408.2:c.5289+29_5289+30insAC	NP_001399.1:n.5289+29_5289+30insAC
XM_005270580.3:c.5289+29_5289+30insAC	XP_005270637.1:n.5289+29_5289+30insAC
NM_001408.3:c.5289+29_5289+30insAC MANE Select	NP_001399.1:n.5289+29_5289+30insAC