Canonical Allele Identifier: CA912995420
Gene: IFT140 HGNC NCBI

Linked Data

dbSNP Id: rs2040122221

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1510972_1510974del , CM000678.2:g.1510972_1510974del GRCh38
NC_000016.9:g.1560973_1560975del , CM000678.1:g.1560973_1560975del GRCh37
NC_000016.8:g.1500974_1500976del NCBI36
NG_032783.1:g.106140_106142del
NG_050910.1:g.22629_22631del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4364_4366del MANE Select ENSP00000406012.2:p.Val1455del
ENST00000361339.9:c.1946_1948del ENSP00000354895.5:p.Val649del
ENST00000397417.6:c.*2802_*2804del ENSP00000380562.2:n.*2802_*2804del
ENST00000426508.6:c.4364_4366del ENSP00000406012.2:p.Val1455del
ENST00000565298.5:n.4188_4190del
NM_014714.3:c.4364_4366del NP_055529.2:p.Val1455del
XM_006720989.2:c.4364_4366del XP_006721052.1:p.Val1455del
XM_006720990.2:c.4364_4366del XP_006721053.1:p.Val1455del
XM_006720991.2:c.4364_4366del XP_006721054.1:p.Val1455del
XM_006720992.2:c.1997_1999del XP_006721055.1:p.Val666del
XM_011522766.1:c.4118_4120del XP_011521068.1:p.Val1373del
XM_011522767.1:c.3389_3391del XP_011521069.1:p.Val1130del
XM_006720990.3:c.4364_4366del XP_006721053.1:p.Val1455del
XM_006720991.3:c.4364_4366del XP_006721054.1:p.Val1455del
XM_006720992.3:c.1997_1999del XP_006721055.1:p.Val666del
XM_011522766.3:c.4118_4120del XP_011521068.1:p.Val1373del
XM_011522767.2:c.3389_3391del XP_011521069.1:p.Val1130del
XM_017023910.1:c.4364_4366del XP_016879399.1:p.Val1455del
XM_017023911.1:c.2549_2551del XP_016879400.1:p.Val850del
NM_014714.4:c.4364_4366del MANE Select NP_055529.2:p.Val1455del