Canonical Allele Identifier: CA2805558994
Gene: IFT140 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1520875_1520876del , CM000678.2:g.1520875_1520876del GRCh38
NC_000016.9:g.1570876_1570877del , CM000678.1:g.1570876_1570877del GRCh37
NC_000016.8:g.1510877_1510878del NCBI36
NG_032783.1:g.96233_96234del

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.3454-68_3454-67del MANE Select ENSP00000406012.2:n.3454-68_3454-67del
ENST00000361339.9:c.1036-68_1036-67del ENSP00000354895.5:n.1036-68_1036-67del
ENST00000397417.6:c.*1892-68_*1892-67del ENSP00000380562.2:n.*1892-68_*1892-67del
ENST00000426508.6:c.3454-68_3454-67del ENSP00000406012.2:n.3454-68_3454-67del
ENST00000565298.5:n.3278-68_3278-67del
NM_014714.3:c.3454-68_3454-67del NP_055529.2:n.3454-68_3454-67del
XM_006720989.2:c.3454-68_3454-67del XP_006721052.1:n.3454-68_3454-67del
XM_006720990.2:c.3454-68_3454-67del XP_006721053.1:n.3454-68_3454-67del
XM_006720991.2:c.3454-68_3454-67del XP_006721054.1:n.3454-68_3454-67del
XM_006720992.2:c.1087-68_1087-67del XP_006721055.1:n.1087-68_1087-67del
XM_011522766.1:c.3208-68_3208-67del XP_011521068.1:n.3208-68_3208-67del
XM_011522767.1:c.2479-68_2479-67del XP_011521069.1:n.2479-68_2479-67del
XM_006720990.3:c.3454-68_3454-67del XP_006721053.1:n.3454-68_3454-67del
XM_006720991.3:c.3454-68_3454-67del XP_006721054.1:n.3454-68_3454-67del
XM_006720992.3:c.1087-68_1087-67del XP_006721055.1:n.1087-68_1087-67del
XM_011522766.3:c.3208-68_3208-67del XP_011521068.1:n.3208-68_3208-67del
XM_011522767.2:c.2479-68_2479-67del XP_011521069.1:n.2479-68_2479-67del
XM_017023910.1:c.3454-68_3454-67del XP_016879399.1:n.3454-68_3454-67del
XM_017023911.1:c.1639-68_1639-67del XP_016879400.1:n.1639-68_1639-67del
NM_014714.4:c.3454-68_3454-67del MANE Select NP_055529.2:n.3454-68_3454-67del