Canonical Allele Identifier: CA2624480773
Gene: HEATR5A HGNC NCBI

Linked Data

gnomAD v4: 14-31394061-GAT-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394062_31394063del , CM000676.2:g.31394062_31394063del GRCh38
NC_000014.8:g.31863268_31863269del , CM000676.1:g.31863268_31863269del GRCh37
NC_000014.7:g.30933019_30933020del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.761_762del MANE Select ENSP00000437968.2:p.His254ProfsTer?
ENST00000543095.6:c.761_762del ENSP00000437968.2:p.His254ProfsTer?
ENST00000549185.5:c.*857_*858del ENSP00000446654.1:n.*857_*858del
NM_015473.3:c.761_762del NP_056288.2:p.His254ProfsTer?
NM_015473.4:c.761_762del MANE Select NP_056288.2:p.His254ProfsTer?
Search 100 bp 5'
Search 100 bp 3'