Canonical Allele Identifier: CA2801067552
Gene: HEATR5A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394008_31394013del , CM000676.2:g.31394008_31394013del GRCh38
NC_000014.8:g.31863214_31863219del , CM000676.1:g.31863214_31863219del GRCh37
NC_000014.7:g.30932965_30932970del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+39_772+44del MANE Select ENSP00000437968.2:n.772+39_772+44del
ENST00000543095.6:c.772+39_772+44del ENSP00000437968.2:n.772+39_772+44del
ENST00000549185.5:c.*868+39_*868+44del ENSP00000446654.1:n.*868+39_*868+44del
NM_015473.3:c.772+39_772+44del NP_056288.2:n.772+39_772+44del
NM_015473.4:c.772+39_772+44del MANE Select NP_056288.2:n.772+39_772+44del