Canonical Allele Identifier: CA2642011315
Gene: RAX HGNC NCBI

Linked Data

gnomAD v4: 18-59269141-AG-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.59269144del , CM000680.2:g.59269144del GRCh38
NC_000018.9:g.56936376del , CM000680.1:g.56936376del GRCh37
NC_000018.8:g.55087356del NCBI36
NG_013031.1:g.9252del

Transcript Alleles

HGVS Amino-acid change
ENST00000334889.4:c.903del MANE Select ENSP00000334813.3:p.Ser302ProfsTer29
ENST00000256852.7:c.*334del ENSP00000256852.7:n.*334del
ENST00000334889.3:c.903del ENSP00000334813.3:p.Ser302ProfsTer29
NM_013435.2:c.903del NP_038463.2:p.Ser302ProfsTer29
NM_013435.3:c.903del MANE Select NP_038463.2:p.Ser302ProfsTer29
Search 100 bp 5'
Search 100 bp 3'