Canonical Allele Identifier: CA1074912535
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs3217251
gnomAD v3: 5-34008101-C-CCGGCGCCACGCCCCCAGCCGCGGCGCCACGCCCCCAGCCG
gnomAD v4: 5-34008101-C-CCGGCGCCACGCCCCCAGCCGCGGCGCCACGCCCCCAGCCG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008128_34008129insACGCCCCCAGCCGCGGCGCCACGCCCCCAGCCGCGGCGCC , CM000667.2:g.34008128_34008129insACGCCCCCAGCCGCGGCGCCACGCCCCCAGCCGCGGCGCC GRCh38
NC_000005.9:g.34008233_34008234insACGCCCCCAGCCGCGGCGCCACGCCCCCAGCCGCGGCGCC , CM000667.1:g.34008233_34008234insACGCCCCCAGCCGCGGCGCCACGCCCCCAGCCGCGGCGCC GRCh37
NC_000005.8:g.34043990_34043991insACGCCCCCAGCCGCGGCGCCACGCCCCCAGCCGCGGCGCC NCBI36
NG_016211.1:g.5014_5015insCGGCTGGGGGCGTGGCGCCGCGGCTGGGGGCGTGGCGCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2203_690-2202insCGGCTGGGGGCGTGGCGCCGCGGCTGGGGGCGTGGCGCCG ENSP00000371511.3:n.690-2203_690-2202insCGGCTGGGGGCGTGGCGCCGC...
NR_037951.1:n.765-2203_765-2202insCGGCTGGGGGCGTGGCGCCGCGGCTGGGGGCGTGGCGCCG
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