Canonical Allele Identifier: CA2535631254
Gene: IFT140 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510488_1510495del , CM000678.2:g.1510488_1510495del GRCh38
NC_000016.9:g.1560489_1560496del , CM000678.1:g.1560489_1560496del GRCh37
NC_000016.8:g.1500490_1500497del NCBI36
NG_032783.1:g.106614_106621del
NG_050910.1:g.22145_22152del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.*449_*456del MANE Select ENSP00000406012.2:n.*449_*456del
ENST00000361339.9:c.*449_*456del ENSP00000354895.5:n.*449_*456del
ENST00000397417.6:c.*3276_*3283del ENSP00000380562.2:n.*3276_*3283del
ENST00000426508.6:c.*449_*456del ENSP00000406012.2:n.*449_*456del
ENST00000565298.5:n.4662_4669del
NM_014714.3:c.*449_*456del NP_055529.2:n.*449_*456del
XM_006720989.2:c.*449_*456del XP_006721052.1:n.*449_*456del
XM_006720990.2:c.*449_*456del XP_006721053.1:n.*449_*456del
XM_006720991.2:c.*449_*456del XP_006721054.1:n.*449_*456del
XM_006720992.2:c.*449_*456del XP_006721055.1:n.*449_*456del
XM_011522766.1:c.*449_*456del XP_011521068.1:n.*449_*456del
XM_011522767.1:c.*449_*456del XP_011521069.1:n.*449_*456del
XM_006720990.3:c.*449_*456del XP_006721053.1:n.*449_*456del
XM_006720991.3:c.*449_*456del XP_006721054.1:n.*449_*456del
XM_006720992.3:c.*449_*456del XP_006721055.1:n.*449_*456del
XM_011522766.3:c.*449_*456del XP_011521068.1:n.*449_*456del
XM_011522767.2:c.*449_*456del XP_011521069.1:n.*449_*456del
XM_017023910.1:c.*449_*456del XP_016879399.1:n.*449_*456del
XM_017023911.1:c.*449_*456del XP_016879400.1:n.*449_*456del
NM_014714.4:c.*449_*456del MANE Select NP_055529.2:n.*449_*456del