Canonical Allele Identifier: CA2624480774
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31394069-GA-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394072del , CM000676.2:g.31394072del GRCh38
NC_000014.8:g.31863278del , CM000676.1:g.31863278del GRCh37
NC_000014.7:g.30933029del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.754del MANE Select ENSP00000437968.2:p.Ser252LeufsTer25
ENST00000543095.6:c.754del ENSP00000437968.2:p.Ser252LeufsTer25
ENST00000549185.5:c.*850del ENSP00000446654.1:n.*850del
NM_015473.3:c.754del NP_056288.2:p.Ser252LeufsTer25
NM_015473.4:c.754del MANE Select NP_056288.2:p.Ser252LeufsTer25
Search 100 bp 5'
Search 100 bp 3'