Canonical Allele Identifier: CA2624480713
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31393972-AAT-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393974_31393975del , CM000676.2:g.31393974_31393975del GRCh38
NC_000014.8:g.31863180_31863181del , CM000676.1:g.31863180_31863181del GRCh37
NC_000014.7:g.30932931_30932932del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+78_772+79del MANE Select ENSP00000437968.2:n.772+78_772+79del
ENST00000543095.6:c.772+78_772+79del ENSP00000437968.2:n.772+78_772+79del
ENST00000549185.5:c.*868+78_*868+79del ENSP00000446654.1:n.*868+78_*868+79del
NM_015473.3:c.772+78_772+79del NP_056288.2:n.772+78_772+79del
NM_015473.4:c.772+78_772+79del MANE Select NP_056288.2:n.772+78_772+79del
Search 100 bp 5'
Search 100 bp 3'