Canonical Allele Identifier: CA2584525860
Gene: RAX2 HGNC NCBI

Linked Data

gnomAD v4: 19-3770679-AG-A
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.3770682del , CM000681.2:g.3770682del GRCh38
NC_000019.9:g.3770680del , CM000681.1:g.3770680del GRCh37
NC_000019.8:g.3721680del NCBI36
NG_011565.1:g.6542del

Transcript Alleles

HGVS Amino-acid change
ENST00000555633.3:c.496del MANE Select ENSP00000450456.3:p.Leu166CysfsTer?
ENST00000555633.2:c.496del ENSP00000450456.2:p.Leu166CysfsTer?
ENST00000555978.5:c.496del ENSP00000450687.2:p.Leu166CysfsTer?
NM_032753.3:c.496del NP_116142.1:p.Leu166CysfsTer?
XM_005259662.1:c.634del XP_005259719.1:p.Leu212CysfsTer?
NM_001319074.1:c.634del NP_001306003.1:p.Leu212CysfsTer?
NM_001319074.4:c.496del MANE Select NP_001306003.2:p.Leu166CysfsTer?
NM_032753.4:c.496del NP_116142.1:p.Leu166CysfsTer?
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