Canonical Allele Identifier: CA7280547
Gene: IFT43 HGNC NCBI

Linked Data

dbSNP Id: rs777661557
ExAC: 14:76452049 T / TG
gnomAD v2: 14-76452049-T-TG
gnomAD v3: 14-75985706-T-TG
gnomAD v4: 14-75985706-T-TG
MyVariant Identifiers: chr14:g.76452049_76452050insG (hg19) chr14:g.75985706_75985707insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75985710dup , CM000676.2:g.75985710dup GRCh38
NC_000014.8:g.76452053dup , CM000676.1:g.76452053dup GRCh37
NC_000014.7:g.75521806dup NCBI36
NG_011715.1:g.1043dup , LRG_399:g.1043dup
NG_031957.1:g.4958dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3175dup
Search 100 bp 5'
Search 100 bp 3'