Canonical Allele Identifier: CA2631006490

Gene: IFT140

Linked Data

• gnomAD v4: 16-1510972-ACCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510977_1510979del , CM000678.2:g.1510977_1510979del	GRCh38
NC_000016.9:g.1560978_1560980del , CM000678.1:g.1560978_1560980del	GRCh37
NC_000016.8:g.1500979_1500981del	NCBI36
NG_032783.1:g.106134_106136del
NG_050910.1:g.22634_22636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4358_4360del MANE Select	ENSP00000406012.2:p.Glu1453del
ENST00000361339.9:c.1940_1942del	ENSP00000354895.5:p.Glu647del
ENST00000397417.6:c.*2796_*2798del	ENSP00000380562.2:n.*2796_*2798del
ENST00000426508.6:c.4358_4360del	ENSP00000406012.2:p.Glu1453del
ENST00000565298.5:n.4182_4184del
NM_014714.3:c.4358_4360del	NP_055529.2:p.Glu1453del
XM_006720989.2:c.4358_4360del	XP_006721052.1:p.Glu1453del
XM_006720990.2:c.4358_4360del	XP_006721053.1:p.Glu1453del
XM_006720991.2:c.4358_4360del	XP_006721054.1:p.Glu1453del
XM_006720992.2:c.1991_1993del	XP_006721055.1:p.Glu664del
XM_011522766.1:c.4112_4114del	XP_011521068.1:p.Glu1371del
XM_011522767.1:c.3383_3385del	XP_011521069.1:p.Glu1128del
XM_006720990.3:c.4358_4360del	XP_006721053.1:p.Glu1453del
XM_006720991.3:c.4358_4360del	XP_006721054.1:p.Glu1453del
XM_006720992.3:c.1991_1993del	XP_006721055.1:p.Glu664del
XM_011522766.3:c.4112_4114del	XP_011521068.1:p.Glu1371del
XM_011522767.2:c.3383_3385del	XP_011521069.1:p.Glu1128del
XM_017023910.1:c.4358_4360del	XP_016879399.1:p.Glu1453del
XM_017023911.1:c.2543_2545del	XP_016879400.1:p.Glu848del
NM_014714.4:c.4358_4360del MANE Select	NP_055529.2:p.Glu1453del