Canonical Allele Identifier: CA2201718331

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1062882
• ClinVar RCV Id: RCV001372647
• dbSNP Id: rs2040120370

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510946_1510947del , CM000678.2:g.1510946_1510947del	GRCh38
NC_000016.9:g.1560947_1560948del , CM000678.1:g.1560947_1560948del	GRCh37
NC_000016.8:g.1500948_1500949del	NCBI36
NG_032783.1:g.106162_106163del
NG_050910.1:g.22603_22604del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4386_4387del MANE Select	ENSP00000406012.2:p.Ter1463ArgextTer?
ENST00000361339.9:c.1968_1969del	ENSP00000354895.5:p.Ter657ArgextTer?
ENST00000397417.6:c.*2824_*2825del	ENSP00000380562.2:n.*2824_*2825del
ENST00000426508.6:c.4386_4387del	ENSP00000406012.2:p.Ter1463ArgextTer?
ENST00000565298.5:n.4210_4211del
NM_014714.3:c.4386_4387del	NP_055529.2:p.Ter1463ArgextTer?
XM_006720989.2:c.4386_4387del	XP_006721052.1:p.Ter1463ArgextTer?
XM_006720990.2:c.4386_4387del	XP_006721053.1:p.Ter1463ArgextTer?
XM_006720991.2:c.4386_4387del	XP_006721054.1:p.Ter1463ArgextTer?
XM_006720992.2:c.2019_2020del	XP_006721055.1:p.Ter674ArgextTer?
XM_011522766.1:c.4140_4141del	XP_011521068.1:p.Ter1381ArgextTer?
XM_011522767.1:c.3411_3412del	XP_011521069.1:p.Ter1138ArgextTer?
XM_006720990.3:c.4386_4387del	XP_006721053.1:p.Ter1463ArgextTer?
XM_006720991.3:c.4386_4387del	XP_006721054.1:p.Ter1463ArgextTer?
XM_006720992.3:c.2019_2020del	XP_006721055.1:p.Ter674ArgextTer?
XM_011522766.3:c.4140_4141del	XP_011521068.1:p.Ter1381ArgextTer?
XM_011522767.2:c.3411_3412del	XP_011521069.1:p.Ter1138ArgextTer?
XM_017023910.1:c.4386_4387del	XP_016879399.1:p.Ter1463ArgextTer?
XM_017023911.1:c.2571_2572del	XP_016879400.1:p.Ter858ArgextTer?
NM_014714.4:c.4386_4387del MANE Select	NP_055529.2:p.Ter1463ArgextTer?