Canonical Allele Identifier: CA116873280
Gene: C1QTNF3-AMACR HGNC NCBI

Linked Data

dbSNP Id: rs937490547
gnomAD v2: 5-34008214-ACGCCCCCAGCCGCGGCGCCG-A
gnomAD v3: 5-34008109-ACGCCCCCAGCCGCGGCGCCG-A
gnomAD v4: 5-34008109-ACGCCCCCAGCCGCGGCGCCG-A
MyVariant Identifiers: chr5:g.34008215_34008234del (hg19) chr5:g.34008110_34008129del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.34008116_34008135del , CM000667.2:g.34008116_34008135del GRCh38
NC_000005.9:g.34008221_34008240del , CM000667.1:g.34008221_34008240del GRCh37
NC_000005.8:g.34043978_34043997del NCBI36
NG_016211.1:g.4987_5006del

Transcript Alleles

HGVS Amino-acid Change
ENST00000382079.3:c.690-2230_690-2211del ENSP00000371511.3:n.690-2230_690-2211del
NR_037951.1:n.765-2230_765-2211del
Search 100 bp 5'
Search 100 bp 3'