Canonical Allele Identifier: CA1538250006
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs1253063753
gnomAD v4: 5-34008167-CCTGCGCAAGCCCGCGGAGT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008175_34008193del , CM000667.2:g.34008175_34008193del GRCh38
NC_000005.9:g.34008280_34008298del , CM000667.1:g.34008280_34008298del GRCh37
NC_000005.8:g.34044037_34044055del NCBI36
NG_016211.1:g.4930_4948del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2287_690-2269del ENSP00000371511.3:n.690-2287_690-2269del
NR_037951.1:n.765-2287_765-2269del
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