Canonical Allele Identifier: CA1074912568
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1754063199
gnomAD v3: 5-34008117-A-AAG
gnomAD v4: 5-34008117-A-AAG
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008117_34008118insAG , CM000667.2:g.34008117_34008118insAG GRCh38
NC_000005.9:g.34008222_34008223insAG , CM000667.1:g.34008222_34008223insAG GRCh37
NC_000005.8:g.34043979_34043980insAG NCBI36
NG_016211.1:g.4998_4999insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2219_690-2218insCT ENSP00000371511.3:n.690-2219_690-2218insCT
NR_037951.1:n.765-2219_765-2218insCT
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