Canonical Allele Identifier: CA2127219195

Gene: HEATR5A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.31393946_31393948delinsCCT , CM000676.2:g.31393946_31393948delinsCCT	GRCh38
NC_000014.8:g.31863152_31863154delinsCCT , CM000676.1:g.31863152_31863154delinsCCT	GRCh37
NC_000014.7:g.30932903_30932905delinsCCT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000543095.7:c.772+104_772+106delinsAGG MANE Select	ENSP00000437968.2:n.772+104_772+106delinsAGG
ENST00000543095.6:c.772+104_772+106delinsAGG	ENSP00000437968.2:n.772+104_772+106delinsAGG
ENST00000549185.5:c.*868+104_*868+106delinsAGG	ENSP00000446654.1:n.*868+104_*868+106delinsAGG
NM_015473.3:c.772+104_772+106delinsAGG	NP_056288.2:n.772+104_772+106delinsAGG
NM_015473.4:c.772+104_772+106delinsAGG MANE Select	NP_056288.2:n.772+104_772+106delinsAGG