Canonical Allele Identifier: CA2201718098
Gene: IFT140 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510492_1510514delinsAGGGGGTGCAGCCGCCAAGGCCC , CM000678.2:g.1510492_1510514delinsAGGGGGTGCAGCCGCCAAGGCCC GRCh38
NC_000016.9:g.1560493_1560515delinsAGGGGGTGCAGCCGCCAAGGCCC , CM000678.1:g.1560493_1560515delinsAGGGGGTGCAGCCGCCAAGGCCC GRCh37
NC_000016.8:g.1500494_1500516delinsAGGGGGTGCAGCCGCCAAGGCCC NCBI36
NG_032783.1:g.106595_106617delinsGGGCCTTGGCGGCTGCACCCCCT
NG_050910.1:g.22149_22171delinsAGGGGGTGCAGCCGCCAAGGCCC

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT MANE Select ENSP00000406012.2:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
ENST00000361339.9:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT ENSP00000354895.5:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
ENST00000397417.6:c.*3257_*3279delinsGGGCCTTGGCGGCTGCACCCCCT ENSP00000380562.2:n.*3257_*3279delinsGGGCCTTGGCGGCTGCACCCCCT
ENST00000426508.6:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT ENSP00000406012.2:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
ENST00000565298.5:n.4643_4665delinsGGGCCTTGGCGGCTGCACCCCCT
NM_014714.3:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT NP_055529.2:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_006720989.2:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_006721052.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_006720990.2:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_006721053.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_006720991.2:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_006721054.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_006720992.2:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_006721055.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_011522766.1:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_011521068.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_011522767.1:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_011521069.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_006720990.3:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_006721053.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_006720991.3:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_006721054.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_006720992.3:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_006721055.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_011522766.3:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_011521068.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_011522767.2:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_011521069.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_017023910.1:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_016879399.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
XM_017023911.1:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT XP_016879400.1:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT
NM_014714.4:c.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT MANE Select NP_055529.2:n.*430_*452delinsGGGCCTTGGCGGCTGCACCCCCT