Canonical Allele Identifier: CA558971247
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1253063753
gnomAD v2: 5-34008272-C-CCTGCGCAAGCCCGCGGAGT
gnomAD v3: 5-34008167-C-CCTGCGCAAGCCCGCGGAGT
gnomAD v4: 5-34008167-C-CCTGCGCAAGCCCGCGGAGT
MyVariant Identifiers: chr5:g.34008272_34008273insCTGCGCAAGCCCGCGGAGT (hg19) chr5:g.34008167_34008168insCTGCGCAAGCCCGCGGAGT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008175_34008193dup , CM000667.2:g.34008175_34008193dup GRCh38
NC_000005.9:g.34008280_34008298dup , CM000667.1:g.34008280_34008298dup GRCh37
NC_000005.8:g.34044037_34044055dup NCBI36
NG_016211.1:g.4930_4948dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2287_690-2269dup ENSP00000371511.3:n.690-2287_690-2269dup
NR_037951.1:n.765-2287_765-2269dup
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