Canonical Allele Identifier: CA2805557854
Gene: IFT140 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1511308_1511309del , CM000678.2:g.1511308_1511309del GRCh38
NC_000016.9:g.1561309_1561310del , CM000678.1:g.1561309_1561310del GRCh37
NC_000016.8:g.1501310_1501311del NCBI36
NG_032783.1:g.105800_105801del
NG_050910.1:g.22965_22966del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4183-159_4183-158del MANE Select ENSP00000406012.2:n.4183-159_4183-158del
ENST00000361339.9:c.1765-159_1765-158del ENSP00000354895.5:n.1765-159_1765-158del
ENST00000397417.6:c.*2621-159_*2621-158del ENSP00000380562.2:n.*2621-159_*2621-158del
ENST00000426508.6:c.4183-159_4183-158del ENSP00000406012.2:n.4183-159_4183-158del
ENST00000565298.5:n.4007-159_4007-158del
NM_014714.3:c.4183-159_4183-158del NP_055529.2:n.4183-159_4183-158del
XM_006720989.2:c.4183-159_4183-158del XP_006721052.1:n.4183-159_4183-158del
XM_006720990.2:c.4183-159_4183-158del XP_006721053.1:n.4183-159_4183-158del
XM_006720991.2:c.4183-159_4183-158del XP_006721054.1:n.4183-159_4183-158del
XM_006720992.2:c.1816-159_1816-158del XP_006721055.1:n.1816-159_1816-158del
XM_011522766.1:c.3937-159_3937-158del XP_011521068.1:n.3937-159_3937-158del
XM_011522767.1:c.3208-159_3208-158del XP_011521069.1:n.3208-159_3208-158del
XM_006720990.3:c.4183-159_4183-158del XP_006721053.1:n.4183-159_4183-158del
XM_006720991.3:c.4183-159_4183-158del XP_006721054.1:n.4183-159_4183-158del
XM_006720992.3:c.1816-159_1816-158del XP_006721055.1:n.1816-159_1816-158del
XM_011522766.3:c.3937-159_3937-158del XP_011521068.1:n.3937-159_3937-158del
XM_011522767.2:c.3208-159_3208-158del XP_011521069.1:n.3208-159_3208-158del
XM_017023910.1:c.4183-159_4183-158del XP_016879399.1:n.4183-159_4183-158del
XM_017023911.1:c.2368-159_2368-158del XP_016879400.1:n.2368-159_2368-158del
NM_014714.4:c.4183-159_4183-158del MANE Select NP_055529.2:n.4183-159_4183-158del