Canonical Allele Identifier: CA2575502495
Gene: HEATR5A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394121del , CM000676.2:g.31394121del GRCh38
NC_000014.8:g.31863327del , CM000676.1:g.31863327del GRCh37
NC_000014.7:g.30933078del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.703del MANE Select ENSP00000437968.2:p.Arg235GlyfsTer8
ENST00000543095.6:c.703del ENSP00000437968.2:p.Arg235GlyfsTer8
ENST00000549185.5:c.*799del ENSP00000446654.1:n.*799del
NM_015473.3:c.703del NP_056288.2:p.Arg235GlyfsTer8
NM_015473.4:c.703del MANE Select NP_056288.2:p.Arg235GlyfsTer8
Search 100 bp 5'
Search 100 bp 3'