Canonical Allele Identifier: CA1188035067

Gene: CELSR2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.109264407_109264409delinsCTG , CM000663.2:g.109264407_109264409delinsCTG	GRCh38
NC_000001.10:g.109807029_109807031delinsCTG , CM000663.1:g.109807029_109807031delinsCTG	GRCh37
NC_000001.9:g.109608552_109608554delinsCTG	NCBI36
NG_052669.1:g.19703_19705delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271332.4:c.5289+42_5290-45delinsCTG MANE Select	ENSP00000271332.3:n.5289+42_5290-45delinsCTG
ENST00000271332.3:c.5289+42_5290-45delinsCTG	ENSP00000271332.3:n.5289+42_5290-45delinsCTG
NM_001408.2:c.5289+42_5290-45delinsCTG	NP_001399.1:n.5289+42_5290-45delinsCTG
XM_005270580.3:c.5289+42_5290-45delinsCTG	XP_005270637.1:n.5289+42_5290-45delinsCTG
NM_001408.3:c.5289+42_5290-45delinsCTG MANE Select	NP_001399.1:n.5289+42_5290-45delinsCTG