Canonical Allele Identifier: CA10641909
Gene: RAX HGNC NCBI

Linked Data

ClinVar Variation Id: 327518
ClinVar RCV Id: RCV000375438
dbSNP Id: rs886054023
gnomAD v2: 18-56934877-CG-C
gnomAD v3: 18-59267645-CG-C
gnomAD v4: 18-59267645-CG-C
MyVariant Identifiers: chr18:g.56934878del (hg19) chr18:g.56934878_56934880delinsTG (hg19) chr18:g.59267646del (hg38) chr18:g.59267646_59267648delinsTG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59267646del , CM000680.2:g.59267646del GRCh38
NC_000018.9:g.56934878del , CM000680.1:g.56934878del GRCh37
NC_000018.8:g.55085858del NCBI36
NG_013031.1:g.10748del

Transcript Alleles

HGVS Amino-acid Change
ENST00000334889.4:c.*1358del MANE Select ENSP00000334813.3:n.*1358del
ENST00000256852.7:c.*1830del ENSP00000256852.7:n.*1830del
ENST00000334889.3:c.*1358del ENSP00000334813.3:n.*1358del
NM_013435.2:c.*1358del NP_038463.2:n.*1358del
NM_013435.3:c.*1358del MANE Select NP_038463.2:n.*1358del
Search 100 bp 5'
Search 100 bp 3'