Canonical Allele Identifier: CA2578282592
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs2112079270
gnomAD v4: 5-34008100-CCCGGCGCCACGCCCCCAGCCG-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008102_34008122del , CM000667.2:g.34008102_34008122del GRCh38
NC_000005.9:g.34008207_34008227del , CM000667.1:g.34008207_34008227del GRCh37
NC_000005.8:g.34043964_34043984del NCBI36
NG_016211.1:g.4995_5015del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2222_690-2202del ENSP00000371511.3:n.690-2222_690-2202del
NR_037951.1:n.765-2222_765-2202del
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