Canonical Allele Identifier: CA615075758
Gene: IFT43 HGNC NCBI

Linked Data

dbSNP Id: rs1235107245
gnomAD v2: 14-76452057-A-AG
gnomAD v4: 14-75985714-A-AG
MyVariant Identifiers: chr14:g.76452057_76452058insG (hg19) chr14:g.75985714_75985715insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75985718dup , CM000676.2:g.75985718dup GRCh38
NC_000014.8:g.76452061dup , CM000676.1:g.76452061dup GRCh37
NC_000014.7:g.75521814dup NCBI36
NG_011715.1:g.1035dup , LRG_399:g.1035dup
NG_031957.1:g.4966dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3167dup
Search 100 bp 5'
Search 100 bp 3'