Canonical Allele Identifier: CA2673482028
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

gnomAD v4: 5-34008131-G-GCCCCAAAGGCACCACC
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008135_34008150dup , CM000667.2:g.34008135_34008150dup GRCh38
NC_000005.9:g.34008240_34008255dup , CM000667.1:g.34008240_34008255dup GRCh37
NC_000005.8:g.34043997_34044012dup NCBI36
NG_016211.1:g.4969_4984dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2248_690-2233dup ENSP00000371511.3:n.690-2248_690-2233dup
NR_037951.1:n.765-2248_765-2233dup
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