Canonical Allele Identifier: CA1005627710
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v3: 1-109264396-T-TCCCCCCCC
gnomAD v4: 1-109264396-T-TCCCCCCCC
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264401_109264402insCCCCCCCC , CM000663.2:g.109264401_109264402insCCCCCCCC GRCh38
NC_000001.10:g.109807023_109807024insCCCCCCCC , CM000663.1:g.109807023_109807024insCCCCCCCC GRCh37
NC_000001.9:g.109608546_109608547insCCCCCCCC NCBI36
NG_052669.1:g.19697_19698insCCCCCCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5289+36_5289+37insCCCCCCCC MANE Select ENSP00000271332.3:n.5289+36_5289+37insCCCCCCCC
ENST00000271332.3:c.5289+36_5289+37insCCCCCCCC ENSP00000271332.3:n.5289+36_5289+37insCCCCCCCC
NM_001408.2:c.5289+36_5289+37insCCCCCCCC NP_001399.1:n.5289+36_5289+37insCCCCCCCC
XM_005270580.3:c.5289+36_5289+37insCCCCCCCC XP_005270637.1:n.5289+36_5289+37insCCCCCCCC
NM_001408.3:c.5289+36_5289+37insCCCCCCCC MANE Select NP_001399.1:n.5289+36_5289+37insCCCCCCCC
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