Canonical Allele Identifier: CA2805557775
Gene: IFT140 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1511244_1511270del , CM000678.2:g.1511244_1511270del GRCh38
NC_000016.9:g.1561245_1561271del , CM000678.1:g.1561245_1561271del GRCh37
NC_000016.8:g.1501246_1501272del NCBI36
NG_032783.1:g.105846_105872del
NG_050910.1:g.22901_22927del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4183-113_4183-87del MANE Select ENSP00000406012.2:n.4183-113_4183-87del
ENST00000361339.9:c.1765-113_1765-87del ENSP00000354895.5:n.1765-113_1765-87del
ENST00000397417.6:c.*2621-113_*2621-87del ENSP00000380562.2:n.*2621-113_*2621-87del
ENST00000426508.6:c.4183-113_4183-87del ENSP00000406012.2:n.4183-113_4183-87del
ENST00000565298.5:n.4007-113_4007-87del
NM_014714.3:c.4183-113_4183-87del NP_055529.2:n.4183-113_4183-87del
XM_006720989.2:c.4183-113_4183-87del XP_006721052.1:n.4183-113_4183-87del
XM_006720990.2:c.4183-113_4183-87del XP_006721053.1:n.4183-113_4183-87del
XM_006720991.2:c.4183-113_4183-87del XP_006721054.1:n.4183-113_4183-87del
XM_006720992.2:c.1816-113_1816-87del XP_006721055.1:n.1816-113_1816-87del
XM_011522766.1:c.3937-113_3937-87del XP_011521068.1:n.3937-113_3937-87del
XM_011522767.1:c.3208-113_3208-87del XP_011521069.1:n.3208-113_3208-87del
XM_006720990.3:c.4183-113_4183-87del XP_006721053.1:n.4183-113_4183-87del
XM_006720991.3:c.4183-113_4183-87del XP_006721054.1:n.4183-113_4183-87del
XM_006720992.3:c.1816-113_1816-87del XP_006721055.1:n.1816-113_1816-87del
XM_011522766.3:c.3937-113_3937-87del XP_011521068.1:n.3937-113_3937-87del
XM_011522767.2:c.3208-113_3208-87del XP_011521069.1:n.3208-113_3208-87del
XM_017023910.1:c.4183-113_4183-87del XP_016879399.1:n.4183-113_4183-87del
XM_017023911.1:c.2368-113_2368-87del XP_016879400.1:n.2368-113_2368-87del
NM_014714.4:c.4183-113_4183-87del MANE Select NP_055529.2:n.4183-113_4183-87del