Canonical Allele Identifier: CA704960293
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1410372619
gnomAD v3: 14-31394124-C-CTATG
gnomAD v4: 14-31394124-C-CTATG
MyVariant Identifiers: chr14:g.31863330_31863331insTATG (hg19) chr14:g.31394124_31394125insTATG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394124_31394125insTATG , CM000676.2:g.31394124_31394125insTATG GRCh38
NC_000014.8:g.31863330_31863331insTATG , CM000676.1:g.31863330_31863331insTATG GRCh37
NC_000014.7:g.30933081_30933082insTATG NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.699_700insCATA MANE Select ENSP00000437968.2:p.Val234HisfsTer16
ENST00000543095.6:c.699_700insCATA ENSP00000437968.2:p.Val234HisfsTer16
ENST00000549185.5:c.*795_*796insCATA ENSP00000446654.1:n.*795_*796insCATA
NM_015473.3:c.699_700insCATA NP_056288.2:p.Val234HisfsTer16
NM_015473.4:c.699_700insCATA MANE Select NP_056288.2:p.Val234HisfsTer16
Search 100 bp 5'
Search 100 bp 3'