Canonical Allele Identifier: CA2744995104
Gene: CELSR2 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264480_109264485del , CM000663.2:g.109264480_109264485del GRCh38
NC_000001.10:g.109807102_109807107del , CM000663.1:g.109807102_109807107del GRCh37
NC_000001.9:g.109608625_109608630del NCBI36
NG_052669.1:g.19776_19781del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5316_5321del MANE Select ENSP00000271332.3:p.Glu1772_Val1774delinsAsp
ENST00000271332.3:c.5316_5321del ENSP00000271332.3:p.Glu1772_Val1774delinsAsp
NM_001408.2:c.5316_5321del NP_001399.1:p.Glu1772_Val1774delinsAsp
XM_005270580.3:c.5316_5321del XP_005270637.1:p.Glu1772_Val1774delinsAsp
NM_001408.3:c.5316_5321del MANE Select NP_001399.1:p.Glu1772_Val1774delinsAsp
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