Canonical Allele Identifier: CA2201718489
Gene: IFT140 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1511189_1511214delinsCAACCAGGCACGACCCTCTGCCTGCA , CM000678.2:g.1511189_1511214delinsCAACCAGGCACGACCCTCTGCCTGCA GRCh38
NC_000016.9:g.1561190_1561215delinsCAACCAGGCACGACCCTCTGCCTGCA , CM000678.1:g.1561190_1561215delinsCAACCAGGCACGACCCTCTGCCTGCA GRCh37
NC_000016.8:g.1501191_1501216delinsCAACCAGGCACGACCCTCTGCCTGCA NCBI36
NG_032783.1:g.105895_105920delinsTGCAGGCAGAGGGTCGTGCCTGGTTG
NG_050910.1:g.22846_22871delinsCAACCAGGCACGACCCTCTGCCTGCA

Transcript Alleles

HGVS Amino-acid Change
ENST00000426508.7:c.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG MANE Select ENSP00000406012.2:n.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCC...
ENST00000361339.9:c.1765-64_1765-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG ENSP00000354895.5:n.1765-64_1765-39delinsTGCAGGCAGAGGGTCGTGCC...
ENST00000397417.6:c.*2621-64_*2621-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG ENSP00000380562.2:n.*2621-64_*2621-39delinsTGCAGGCAGAGGGTCGTG...
ENST00000426508.6:c.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG ENSP00000406012.2:n.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCC...
ENST00000565298.5:n.4007-64_4007-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG
NM_014714.3:c.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG NP_055529.2:n.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG...
XM_006720989.2:c.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_006721052.1:n.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_006720990.2:c.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_006721053.1:n.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_006720991.2:c.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_006721054.1:n.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_006720992.2:c.1816-64_1816-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_006721055.1:n.1816-64_1816-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_011522766.1:c.3937-64_3937-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_011521068.1:n.3937-64_3937-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_011522767.1:c.3208-64_3208-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_011521069.1:n.3208-64_3208-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_006720990.3:c.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_006721053.1:n.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_006720991.3:c.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_006721054.1:n.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_006720992.3:c.1816-64_1816-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_006721055.1:n.1816-64_1816-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_011522766.3:c.3937-64_3937-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_011521068.1:n.3937-64_3937-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_011522767.2:c.3208-64_3208-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_011521069.1:n.3208-64_3208-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_017023910.1:c.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_016879399.1:n.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
XM_017023911.1:c.2368-64_2368-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG XP_016879400.1:n.2368-64_2368-39delinsTGCAGGCAGAGGGTCGTGCCTGG...
NM_014714.4:c.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG MANE Select NP_055529.2:n.4183-64_4183-39delinsTGCAGGCAGAGGGTCGTGCCTGGTTG...