Canonical Allele Identifier: CA1005627699
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v3: 1-109264391-T-TCCCCCCCCCCCCCA
gnomAD v4: 1-109264391-T-TCCCCCCCCCCCCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264395_109264396insCCCCCCCCCACCCC , CM000663.2:g.109264395_109264396insCCCCCCCCCACCCC GRCh38
NC_000001.10:g.109807017_109807018insCCCCCCCCCACCCC , CM000663.1:g.109807017_109807018insCCCCCCCCCACCCC GRCh37
NC_000001.9:g.109608540_109608541insCCCCCCCCCACCCC NCBI36
NG_052669.1:g.19691_19692insCCCCCCCCCACCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5289+30_5289+31insCCCCCCCCCACCCC MANE Select ENSP00000271332.3:n.5289+30_5289+31insCCCCCCCCCACCCC
ENST00000271332.3:c.5289+30_5289+31insCCCCCCCCCACCCC ENSP00000271332.3:n.5289+30_5289+31insCCCCCCCCCACCCC
NM_001408.2:c.5289+30_5289+31insCCCCCCCCCACCCC NP_001399.1:n.5289+30_5289+31insCCCCCCCCCACCCC
XM_005270580.3:c.5289+30_5289+31insCCCCCCCCCACCCC XP_005270637.1:n.5289+30_5289+31insCCCCCCCCCACCCC
NM_001408.3:c.5289+30_5289+31insCCCCCCCCCACCCC MANE Select NP_001399.1:n.5289+30_5289+31insCCCCCCCCCACCCC
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