Canonical Allele Identifier: CA2631006492

Gene: IFT140

Linked Data

• gnomAD v4: 16-1520754-TCTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520758_1520760del , CM000678.2:g.1520758_1520760del	GRCh38
NC_000016.9:g.1570759_1570761del , CM000678.1:g.1570759_1570761del	GRCh37
NC_000016.8:g.1510760_1510762del	NCBI36
NG_032783.1:g.96352_96354del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3505_3507del MANE Select	ENSP00000406012.2:p.Glu1169del
ENST00000361339.9:c.1087_1089del	ENSP00000354895.5:p.Glu363del
ENST00000397417.6:c.*1943_*1945del	ENSP00000380562.2:n.*1943_*1945del
ENST00000426508.6:c.3505_3507del	ENSP00000406012.2:p.Glu1169del
ENST00000565298.5:n.3329_3331del
NM_014714.3:c.3505_3507del	NP_055529.2:p.Glu1169del
XM_006720989.2:c.3505_3507del	XP_006721052.1:p.Glu1169del
XM_006720990.2:c.3505_3507del	XP_006721053.1:p.Glu1169del
XM_006720991.2:c.3505_3507del	XP_006721054.1:p.Glu1169del
XM_006720992.2:c.1138_1140del	XP_006721055.1:p.Glu380del
XM_011522766.1:c.3259_3261del	XP_011521068.1:p.Glu1087del
XM_011522767.1:c.2530_2532del	XP_011521069.1:p.Glu844del
XM_006720990.3:c.3505_3507del	XP_006721053.1:p.Glu1169del
XM_006720991.3:c.3505_3507del	XP_006721054.1:p.Glu1169del
XM_006720992.3:c.1138_1140del	XP_006721055.1:p.Glu380del
XM_011522766.3:c.3259_3261del	XP_011521068.1:p.Glu1087del
XM_011522767.2:c.2530_2532del	XP_011521069.1:p.Glu844del
XM_017023910.1:c.3505_3507del	XP_016879399.1:p.Glu1169del
XM_017023911.1:c.1690_1692del	XP_016879400.1:p.Glu564del
NM_014714.4:c.3505_3507del MANE Select	NP_055529.2:p.Glu1169del