Canonical Allele Identifier: CA2631013594
Gene: IFT140 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.1566231_1566232del , CM000678.2:g.1566231_1566232del GRCh38
NC_000016.9:g.1616232_1616233del , CM000678.1:g.1616232_1616233del GRCh37
NC_000016.8:g.1556233_1556234del NCBI36
NG_032783.1:g.50877_50878del

Transcript Alleles

HGVS Amino-acid change
ENST00000426508.7:c.1830_1831del MANE Select ENSP00000406012.2:p.Val611LeufsTer2
ENST00000397417.6:c.*382_*383del ENSP00000380562.2:n.*382_*383del
ENST00000426508.6:c.1830_1831del ENSP00000406012.2:p.Val611LeufsTer2
ENST00000439987.6:n.1891_1892del
ENST00000565298.5:n.518_519del
NM_014714.3:c.1830_1831del NP_055529.2:p.Val611LeufsTer2
XM_005255725.3:c.1830_1831del XP_005255782.1:p.Val611LeufsTer2
XM_005255726.2:c.1830_1831del XP_005255783.1:p.Val611LeufsTer2
XM_006720989.2:c.1830_1831del XP_006721052.1:p.Val611LeufsTer2
XM_006720990.2:c.1830_1831del XP_006721053.1:p.Val611LeufsTer2
XM_006720991.2:c.1830_1831del XP_006721054.1:p.Val611LeufsTer2
XM_011522766.1:c.1584_1585del XP_011521068.1:p.Val529LeufsTer2
XM_011522767.1:c.855_856del XP_011521069.1:p.Val286LeufsTer2
XM_011522768.1:c.1830_1831del XP_011521070.1:p.Val611LeufsTer2
XM_011522769.1:c.1830_1831del XP_011521071.1:p.Val611LeufsTer2
XM_011522771.1:c.1830_1831del XP_011521073.1:p.Val611LeufsTer2
XM_011522772.1:c.1830_1831del XP_011521074.1:p.Val611LeufsTer2
XM_005255725.5:c.1830_1831del XP_005255782.1:p.Val611LeufsTer2
XM_005255726.4:c.1830_1831del XP_005255783.1:p.Val611LeufsTer2
XM_006720990.3:c.1830_1831del XP_006721053.1:p.Val611LeufsTer2
XM_006720991.3:c.1830_1831del XP_006721054.1:p.Val611LeufsTer2
XM_011522766.3:c.1584_1585del XP_011521068.1:p.Val529LeufsTer2
XM_011522767.2:c.855_856del XP_011521069.1:p.Val286LeufsTer2
XM_011522769.3:c.1830_1831del XP_011521071.1:p.Val611LeufsTer2
XM_011522771.3:c.1830_1831del XP_011521073.1:p.Val611LeufsTer2
XM_011522772.3:c.1830_1831del XP_011521074.1:p.Val611LeufsTer2
XM_017023910.1:c.1830_1831del XP_016879399.1:p.Val611LeufsTer2
XM_017023911.1:c.15_16del XP_016879400.1:p.Val6LeufsTer2
NM_014714.4:c.1830_1831del MANE Select NP_055529.2:p.Val611LeufsTer2