Canonical Allele Identifier: CA10651165
Gene: RAX HGNC NCBI

Linked Data

ClinVar Variation Id: 327514
ClinVar RCV Id: RCV000323855
dbSNP Id: rs543386393
gnomAD v2: 18-56934863-GCC-G
gnomAD v3: 18-59267631-GCC-G
gnomAD v4: 18-59267631-GCC-G
MyVariant Identifiers: chr18:g.56934865_56934866del (hg19) chr18:g.56934864_56934865del (hg19) chr18:g.59267633_59267634del (hg38) chr18:g.59267632_59267633del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59267644_59267645del , CM000680.2:g.59267644_59267645del GRCh38
NC_000018.9:g.56934876_56934877del , CM000680.1:g.56934876_56934877del GRCh37
NC_000018.8:g.55085856_55085857del NCBI36
NG_013031.1:g.10761_10762del

Transcript Alleles

HGVS Amino-acid Change
ENST00000334889.4:c.*1371_*1372del MANE Select ENSP00000334813.3:n.*1371_*1372del
ENST00000256852.7:c.*1843_*1844del ENSP00000256852.7:n.*1843_*1844del
ENST00000334889.3:c.*1371_*1372del ENSP00000334813.3:n.*1371_*1372del
NM_013435.2:c.*1371_*1372del NP_038463.2:n.*1371_*1372del
NM_013435.3:c.*1371_*1372del MANE Select NP_038463.2:n.*1371_*1372del
Search 100 bp 5'
Search 100 bp 3'