Canonical Allele Identifier: CA116873209
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

ClinVar Variation Id: 1230984
ClinVar RCV Id: RCV001617031
dbSNP Id: rs3217251
gnomAD v2: 5-34008206-CCGGCGCCACGCCCCCAGCCG-C
gnomAD v3: 5-34008101-CCGGCGCCACGCCCCCAGCCG-C
gnomAD v4: 5-34008101-CCGGCGCCACGCCCCCAGCCG-C
MyVariant Identifiers: chr5:g.34008207_34008226del (hg19) chr5:g.34008102_34008121del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008109_34008128del , CM000667.2:g.34008109_34008128del GRCh38
NC_000005.9:g.34008214_34008233del , CM000667.1:g.34008214_34008233del GRCh37
NC_000005.8:g.34043971_34043990del NCBI36
NG_016211.1:g.4995_5014del

Transcript Alleles

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