Canonical Allele Identifier: CA2805557860
Gene: IFT140 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1511312_1511315del , CM000678.2:g.1511312_1511315del GRCh38
NC_000016.9:g.1561313_1561316del , CM000678.1:g.1561313_1561316del GRCh37
NC_000016.8:g.1501314_1501317del NCBI36
NG_032783.1:g.105794_105797del
NG_050910.1:g.22969_22972del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4183-165_4183-162del MANE Select ENSP00000406012.2:n.4183-165_4183-162del
ENST00000361339.9:c.1765-165_1765-162del ENSP00000354895.5:n.1765-165_1765-162del
ENST00000397417.6:c.*2621-165_*2621-162del ENSP00000380562.2:n.*2621-165_*2621-162del
ENST00000426508.6:c.4183-165_4183-162del ENSP00000406012.2:n.4183-165_4183-162del
ENST00000565298.5:n.4007-165_4007-162del
NM_014714.3:c.4183-165_4183-162del NP_055529.2:n.4183-165_4183-162del
XM_006720989.2:c.4183-165_4183-162del XP_006721052.1:n.4183-165_4183-162del
XM_006720990.2:c.4183-165_4183-162del XP_006721053.1:n.4183-165_4183-162del
XM_006720991.2:c.4183-165_4183-162del XP_006721054.1:n.4183-165_4183-162del
XM_006720992.2:c.1816-165_1816-162del XP_006721055.1:n.1816-165_1816-162del
XM_011522766.1:c.3937-165_3937-162del XP_011521068.1:n.3937-165_3937-162del
XM_011522767.1:c.3208-165_3208-162del XP_011521069.1:n.3208-165_3208-162del
XM_006720990.3:c.4183-165_4183-162del XP_006721053.1:n.4183-165_4183-162del
XM_006720991.3:c.4183-165_4183-162del XP_006721054.1:n.4183-165_4183-162del
XM_006720992.3:c.1816-165_1816-162del XP_006721055.1:n.1816-165_1816-162del
XM_011522766.3:c.3937-165_3937-162del XP_011521068.1:n.3937-165_3937-162del
XM_011522767.2:c.3208-165_3208-162del XP_011521069.1:n.3208-165_3208-162del
XM_017023910.1:c.4183-165_4183-162del XP_016879399.1:n.4183-165_4183-162del
XM_017023911.1:c.2368-165_2368-162del XP_016879400.1:n.2368-165_2368-162del
NM_014714.4:c.4183-165_4183-162del MANE Select NP_055529.2:n.4183-165_4183-162del