Canonical Allele Identifier: CA2739292015
Gene: CELSR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264332delinsGCCG , CM000663.2:g.109264332delinsGCCG GRCh38
NC_000001.10:g.109806954delinsGCCG , CM000663.1:g.109806954delinsGCCG GRCh37
NC_000001.9:g.109608477delinsGCCG NCBI36
NG_052669.1:g.19628delinsGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5256delinsGCCG MANE Select ENSP00000271332.3:p.Gly1752_Gly1753insPro
ENST00000271332.3:c.5256delinsGCCG ENSP00000271332.3:p.Gly1752_Gly1753insPro
NM_001408.2:c.5256delinsGCCG NP_001399.1:p.Gly1752_Gly1753insPro
XM_005270580.3:c.5256delinsGCCG XP_005270637.1:p.Gly1752_Gly1753insPro
NM_001408.3:c.5256delinsGCCG MANE Select NP_001399.1:p.Gly1752_Gly1753insPro