Canonical Allele Identifier: CA704960044
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1299293836
gnomAD v3: 14-31393820-T-TA
gnomAD v4: 14-31393820-T-TA
MyVariant Identifiers: chr14:g.31863026_31863027insA (hg19) chr14:g.31393820_31393821insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31393820_31393821insA , CM000676.2:g.31393820_31393821insA GRCh38
NC_000014.8:g.31863026_31863027insA , CM000676.1:g.31863026_31863027insA GRCh37
NC_000014.7:g.30932777_30932778insA NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+231_772+232insT MANE Select ENSP00000437968.2:n.772+231_772+232insT
ENST00000543095.6:c.772+231_772+232insT ENSP00000437968.2:n.772+231_772+232insT
ENST00000549185.5:c.*868+231_*868+232insT ENSP00000446654.1:n.*868+231_*868+232insT
NM_015473.3:c.772+231_772+232insT NP_056288.2:n.772+231_772+232insT
NM_015473.4:c.772+231_772+232insT MANE Select NP_056288.2:n.772+231_772+232insT
Search 100 bp 5'
Search 100 bp 3'