Canonical Allele Identifier: CA525625682
Gene: CELSR2 HGNC NCBI

Linked Data

dbSNP Id: rs1441709231
gnomAD v2: 1-109807029-CTG-C
gnomAD v3: 1-109264407-CTG-C
gnomAD v4: 1-109264407-CTG-C
MyVariant Identifiers: chr1:g.109807030_109807031del (hg19) chr1:g.109264408_109264409del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264408_109264409del , CM000663.2:g.109264408_109264409del GRCh38
NC_000001.10:g.109807030_109807031del , CM000663.1:g.109807030_109807031del GRCh37
NC_000001.9:g.109608553_109608554del NCBI36
NG_052669.1:g.19704_19705del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5289+43_5290-45del MANE Select ENSP00000271332.3:n.5289+43_5290-45del
ENST00000271332.3:c.5289+43_5290-45del ENSP00000271332.3:n.5289+43_5290-45del
NM_001408.2:c.5289+43_5290-45del NP_001399.1:n.5289+43_5290-45del
XM_005270580.3:c.5289+43_5290-45del XP_005270637.1:n.5289+43_5290-45del
NM_001408.3:c.5289+43_5290-45del MANE Select NP_001399.1:n.5289+43_5290-45del
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