Canonical Allele Identifier: CA2624480776
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31394127-CAT-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394129_31394130del , CM000676.2:g.31394129_31394130del GRCh38
NC_000014.8:g.31863335_31863336del , CM000676.1:g.31863335_31863336del GRCh37
NC_000014.7:g.30933086_30933087del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.695_696del MANE Select ENSP00000437968.2:p.Tyr232Ter
ENST00000543095.6:c.695_696del ENSP00000437968.2:p.Tyr232Ter
ENST00000549185.5:c.*791_*792del ENSP00000446654.1:n.*791_*792del
NM_015473.3:c.695_696del NP_056288.2:p.Tyr232Ter
NM_015473.4:c.695_696del MANE Select NP_056288.2:p.Tyr232Ter
Search 100 bp 5'
Search 100 bp 3'