Canonical Allele Identifier: CA2127219270
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs2030558250
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394127_31394129del , CM000676.2:g.31394127_31394129del GRCh38
NC_000014.8:g.31863333_31863335del , CM000676.1:g.31863333_31863335del GRCh37
NC_000014.7:g.30933084_30933086del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.698_700del MANE Select ENSP00000437968.2:p.Asp233del
ENST00000543095.6:c.698_700del ENSP00000437968.2:p.Asp233del
ENST00000549185.5:c.*794_*796del ENSP00000446654.1:n.*794_*796del
NM_015473.3:c.698_700del NP_056288.2:p.Asp233del
NM_015473.4:c.698_700del MANE Select NP_056288.2:p.Asp233del
Search 100 bp 5'
Search 100 bp 3'