Canonical Allele Identifier: CA1005627687
Gene: CELSR2 HGNC NCBI

Linked Data

gnomAD v3: 1-109264385-C-CACCCCA
gnomAD v4: 1-109264385-C-CACCCCA
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.109264385_109264386insACCCCA , CM000663.2:g.109264385_109264386insACCCCA GRCh38
NC_000001.10:g.109807007_109807008insACCCCA , CM000663.1:g.109807007_109807008insACCCCA GRCh37
NC_000001.9:g.109608530_109608531insACCCCA NCBI36
NG_052669.1:g.19681_19682insACCCCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000271332.4:c.5289+20_5289+21insACCCCA MANE Select ENSP00000271332.3:n.5289+20_5289+21insACCCCA
ENST00000271332.3:c.5289+20_5289+21insACCCCA ENSP00000271332.3:n.5289+20_5289+21insACCCCA
NM_001408.2:c.5289+20_5289+21insACCCCA NP_001399.1:n.5289+20_5289+21insACCCCA
XM_005270580.3:c.5289+20_5289+21insACCCCA XP_005270637.1:n.5289+20_5289+21insACCCCA
NM_001408.3:c.5289+20_5289+21insACCCCA MANE Select NP_001399.1:n.5289+20_5289+21insACCCCA
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