Canonical Allele Identifier: CA987503
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs747835981
ExAC: 1:109807056 AC / A
gnomAD v2: 1-109807056-AC-A
gnomAD v4: 1-109264434-AC-A
MyVariant Identifiers: chr1:g.109807057del (hg19) chr1:g.109264435del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264435del , CM000663.2:g.109264435del GRCh38
NC_000001.10:g.109807057del , CM000663.1:g.109807057del GRCh37
NC_000001.9:g.109608580del NCBI36
NG_052669.1:g.19731del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5290-19del MANE Select ENSP00000271332.3:n.5290-19del
ENST00000271332.3:c.5290-19del ENSP00000271332.3:n.5290-19del
NM_001408.2:c.5290-19del NP_001399.1:n.5290-19del
XM_005270580.3:c.5290-19del XP_005270637.1:n.5290-19del
NM_001408.3:c.5290-19del MANE Select NP_001399.1:n.5290-19del
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