Canonical Allele Identifier: CA615075749
Gene: IFT43 HGNC NCBI

Linked Data

dbSNP Id: rs1394992124
gnomAD v2: 14-76452027-ATGC-A
gnomAD v3: 14-75985684-ATGC-A
gnomAD v4: 14-75985684-ATGC-A
MyVariant Identifiers: chr14:g.76452028_76452030del (hg19) chr14:g.75985685_75985687del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75985688_75985690del , CM000676.2:g.75985688_75985690del GRCh38
NC_000014.8:g.76452031_76452033del , CM000676.1:g.76452031_76452033del GRCh37
NC_000014.7:g.75521784_75521786del NCBI36
NG_011715.1:g.1063_1065del , LRG_399:g.1063_1065del
NG_031957.1:g.4936_4938del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3197_90-3195del
Search 100 bp 5'
Search 100 bp 3'