Canonical Allele Identifier: CA1188035070
Gene: CELSR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264410_109264412delinsCAG , CM000663.2:g.109264410_109264412delinsCAG GRCh38
NC_000001.10:g.109807032_109807034delinsCAG , CM000663.1:g.109807032_109807034delinsCAG GRCh37
NC_000001.9:g.109608555_109608557delinsCAG NCBI36
NG_052669.1:g.19706_19708delinsCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5290-44_5290-42delinsCAG MANE Select ENSP00000271332.3:n.5290-44_5290-42delinsCAG
ENST00000271332.3:c.5290-44_5290-42delinsCAG ENSP00000271332.3:n.5290-44_5290-42delinsCAG
NM_001408.2:c.5290-44_5290-42delinsCAG NP_001399.1:n.5290-44_5290-42delinsCAG
XM_005270580.3:c.5290-44_5290-42delinsCAG XP_005270637.1:n.5290-44_5290-42delinsCAG
NM_001408.3:c.5290-44_5290-42delinsCAG MANE Select NP_001399.1:n.5290-44_5290-42delinsCAG