Canonical Allele Identifier: CA2595111652
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

gnomAD v3: 5-34008134-CCAAAGGCA-C
gnomAD v4: 5-34008134-CCAAAGGCA-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008136_34008143del , CM000667.2:g.34008136_34008143del GRCh38
NC_000005.9:g.34008241_34008248del , CM000667.1:g.34008241_34008248del GRCh37
NC_000005.8:g.34043998_34044005del NCBI36
NG_016211.1:g.4974_4981del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2243_690-2236del ENSP00000371511.3:n.690-2243_690-2236del
NR_037951.1:n.765-2243_765-2236del
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