Canonical Allele Identifier: CA116873219
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs3217251
gnomAD v2: 5-34008206-C-CCGGCGCCACGCCCCCAGCCG
gnomAD v3: 5-34008101-C-CCGGCGCCACGCCCCCAGCCG
gnomAD v4: 5-34008101-C-CCGGCGCCACGCCCCCAGCCG
MyVariant Identifiers: chr5:g.34008226_34008227insCGGCGCCACGCCCCCAGCCG (hg19) chr5:g.34008206_34008207insCGGCGCCACGCCCCCAGCCG (hg19) chr5:g.34008121_34008122insCGGCGCCACGCCCCCAGCCG (hg38) chr5:g.34008101_34008102insCGGCGCCACGCCCCCAGCCG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008109_34008128dup , CM000667.2:g.34008109_34008128dup GRCh38
NC_000005.9:g.34008214_34008233dup , CM000667.1:g.34008214_34008233dup GRCh37
NC_000005.8:g.34043971_34043990dup NCBI36
NG_016211.1:g.4995_5014dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2222_690-2203dup ENSP00000371511.3:n.690-2222_690-2203dup
NR_037951.1:n.765-2222_765-2203dup
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