Canonical Allele Identifier: CA613324066
Gene: HEATR5A HGNC NCBI

Linked Data

dbSNP Id: rs1284192917
gnomAD v2: 14-31863213-G-GA
gnomAD v3: 14-31394007-G-GA
gnomAD v4: 14-31394007-G-GA
MyVariant Identifiers: chr14:g.31863213_31863214insA (hg19) chr14:g.31394007_31394008insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.31394013dup , CM000676.2:g.31394013dup GRCh38
NC_000014.8:g.31863219dup , CM000676.1:g.31863219dup GRCh37
NC_000014.7:g.30932970dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000543095.7:c.772+44dup MANE Select ENSP00000437968.2:n.772+44dup
ENST00000543095.6:c.772+44dup ENSP00000437968.2:n.772+44dup
ENST00000549185.5:c.*868+44dup ENSP00000446654.1:n.*868+44dup
NM_015473.3:c.772+44dup NP_056288.2:n.772+44dup
NM_015473.4:c.772+44dup MANE Select NP_056288.2:n.772+44dup
Search 100 bp 5'
Search 100 bp 3'