Canonical Allele Identifier: CA704960068
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1333386966
MyVariant Identifiers: chr14:g.31863153_31863154del (hg19) chr14:g.31393947_31393948del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393947_31393948del , CM000676.2:g.31393947_31393948del GRCh38
NC_000014.8:g.31863153_31863154del , CM000676.1:g.31863153_31863154del GRCh37
NC_000014.7:g.30932904_30932905del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+104_772+105del MANE Select ENSP00000437968.2:n.772+104_772+105del
ENST00000543095.6:c.772+104_772+105del ENSP00000437968.2:n.772+104_772+105del
ENST00000549185.5:c.*868+104_*868+105del ENSP00000446654.1:n.*868+104_*868+105del
NM_015473.3:c.772+104_772+105del NP_056288.2:n.772+104_772+105del
NM_015473.4:c.772+104_772+105del MANE Select NP_056288.2:n.772+104_772+105del
Search 100 bp 5'
Search 100 bp 3'