Canonical Allele Identifier: CA1005627716
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v3: 1-109264401-CACCACCTGCAG-C
gnomAD v4: 1-109264401-CACCACCTGCAG-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264402_109264412del , CM000663.2:g.109264402_109264412del GRCh38
NC_000001.10:g.109807024_109807034del , CM000663.1:g.109807024_109807034del GRCh37
NC_000001.9:g.109608547_109608557del NCBI36
NG_052669.1:g.19698_19708del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5289+37_5290-42del MANE Select ENSP00000271332.3:n.5289+37_5290-42del
ENST00000271332.3:c.5289+37_5290-42del ENSP00000271332.3:n.5289+37_5290-42del
NM_001408.2:c.5289+37_5290-42del NP_001399.1:n.5289+37_5290-42del
XM_005270580.3:c.5289+37_5290-42del XP_005270637.1:n.5289+37_5290-42del
NM_001408.3:c.5289+37_5290-42del MANE Select NP_001399.1:n.5289+37_5290-42del
Search 100 bp 5'
Search 100 bp 3'