Canonical Allele Identifier: CA609359585
Gene: FRY HGNC NCBI
EEF1DP3 HGNC NCBI

Linked Data

dbSNP Id: rs1343179238
gnomAD v2: 13-32446913-T-TA
gnomAD v3: 13-31872776-T-TA
gnomAD v4: 13-31872776-T-TA
MyVariant Identifiers: chr13:g.32446913_32446914insA (hg19) chr13:g.31872776_31872777insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.31872777dup , CM000675.2:g.31872777dup GRCh38
NC_000013.10:g.32446914dup , CM000675.1:g.32446914dup GRCh37
NC_000013.9:g.31344914dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000645780.1:c.-254+25838dup (FRY) ENSP00000494080.1:n.-254+25838dup
ENST00000428783.1:n.99+25838dup (EEF1DP3)
NR_027062.1:n.157+25838dup (EEF1DP3)
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