Canonical Allele Identifier: CA2127219268
Gene: HEATR5A HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394123_31394126delinsACAT , CM000676.2:g.31394123_31394126delinsACAT GRCh38
NC_000014.8:g.31863329_31863332delinsACAT , CM000676.1:g.31863329_31863332delinsACAT GRCh37
NC_000014.7:g.30933080_30933083delinsACAT NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.698_701delinsATGT MANE Select ENSP00000437968.2:p.Asp233=
ENST00000543095.6:c.698_701delinsATGT ENSP00000437968.2:p.Asp233=
ENST00000549185.5:c.*794_*797delinsATGT ENSP00000446654.1:n.*794_*797delinsATGT
NM_015473.3:c.698_701delinsATGT NP_056288.2:p.Asp233=
NM_015473.4:c.698_701delinsATGT MANE Select NP_056288.2:p.Asp233=
Search 100 bp 5'
Search 100 bp 3'