Canonical Allele Identifier: CA558971240
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs937490547
gnomAD v2: 5-34008214-A-ACGCCCCCAGCCGCGGCGCCG
gnomAD v3: 5-34008109-A-ACGCCCCCAGCCGCGGCGCCG
gnomAD v4: 5-34008109-A-ACGCCCCCAGCCGCGGCGCCG
MyVariant Identifiers: chr5:g.34008234_34008235insCGCCCCCAGCCGCGGCGCCG (hg19) chr5:g.34008214_34008215insCGCCCCCAGCCGCGGCGCCG (hg19) chr5:g.34008129_34008130insCGCCCCCAGCCGCGGCGCCG (hg38) chr5:g.34008109_34008110insCGCCCCCAGCCGCGGCGCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008116_34008135dup , CM000667.2:g.34008116_34008135dup GRCh38
NC_000005.9:g.34008221_34008240dup , CM000667.1:g.34008221_34008240dup GRCh37
NC_000005.8:g.34043978_34043997dup NCBI36
NG_016211.1:g.4987_5006dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2230_690-2211dup ENSP00000371511.3:n.690-2230_690-2211dup
NR_037951.1:n.765-2230_765-2211dup
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