Canonical Allele Identifier: CA2805557807
Gene: IFT140 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1511259_1511262del , CM000678.2:g.1511259_1511262del GRCh38
NC_000016.9:g.1561260_1561263del , CM000678.1:g.1561260_1561263del GRCh37
NC_000016.8:g.1501261_1501264del NCBI36
NG_032783.1:g.105847_105850del
NG_050910.1:g.22916_22919del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4183-112_4183-109del MANE Select ENSP00000406012.2:n.4183-112_4183-109del
ENST00000361339.9:c.1765-112_1765-109del ENSP00000354895.5:n.1765-112_1765-109del
ENST00000397417.6:c.*2621-112_*2621-109del ENSP00000380562.2:n.*2621-112_*2621-109del
ENST00000426508.6:c.4183-112_4183-109del ENSP00000406012.2:n.4183-112_4183-109del
ENST00000565298.5:n.4007-112_4007-109del
NM_014714.3:c.4183-112_4183-109del NP_055529.2:n.4183-112_4183-109del
XM_006720989.2:c.4183-112_4183-109del XP_006721052.1:n.4183-112_4183-109del
XM_006720990.2:c.4183-112_4183-109del XP_006721053.1:n.4183-112_4183-109del
XM_006720991.2:c.4183-112_4183-109del XP_006721054.1:n.4183-112_4183-109del
XM_006720992.2:c.1816-112_1816-109del XP_006721055.1:n.1816-112_1816-109del
XM_011522766.1:c.3937-112_3937-109del XP_011521068.1:n.3937-112_3937-109del
XM_011522767.1:c.3208-112_3208-109del XP_011521069.1:n.3208-112_3208-109del
XM_006720990.3:c.4183-112_4183-109del XP_006721053.1:n.4183-112_4183-109del
XM_006720991.3:c.4183-112_4183-109del XP_006721054.1:n.4183-112_4183-109del
XM_006720992.3:c.1816-112_1816-109del XP_006721055.1:n.1816-112_1816-109del
XM_011522766.3:c.3937-112_3937-109del XP_011521068.1:n.3937-112_3937-109del
XM_011522767.2:c.3208-112_3208-109del XP_011521069.1:n.3208-112_3208-109del
XM_017023910.1:c.4183-112_4183-109del XP_016879399.1:n.4183-112_4183-109del
XM_017023911.1:c.2368-112_2368-109del XP_016879400.1:n.2368-112_2368-109del
NM_014714.4:c.4183-112_4183-109del MANE Select NP_055529.2:n.4183-112_4183-109del