Canonical Allele Identifier: CA2625774220
Gene: IFT43 HGNC NCBI

Linked Data

dbSNP Id: rs2139851099
gnomAD v4: 14-75985713-GA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.75985714del , CM000676.2:g.75985714del GRCh38
NC_000014.8:g.76452057del , CM000676.1:g.76452057del GRCh37
NC_000014.7:g.75521810del NCBI36
NG_011715.1:g.1036del , LRG_399:g.1036del
NG_031957.1:g.4962del

Transcript Alleles

HGVS Amino-acid Change
ENST00000555677.5:n.90-3171del
Search 100 bp 5'
Search 100 bp 3'