Canonical Allele Identifier: CA2631006491

Gene: IFT140

Linked Data

• gnomAD v4: 16-1520743-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520747del , CM000678.2:g.1520747del	GRCh38
NC_000016.9:g.1570748del , CM000678.1:g.1570748del	GRCh37
NC_000016.8:g.1510749del	NCBI36
NG_032783.1:g.96365del

Transcript Alleles

HGVS	Amino-acid change
ENST00000426508.7:c.3518del MANE Select	ENSP00000406012.2:p.Lys1173ArgfsTer2
ENST00000361339.9:c.1100del	ENSP00000354895.5:p.Lys367ArgfsTer2
ENST00000397417.6:c.*1956del	ENSP00000380562.2:n.*1956del
ENST00000426508.6:c.3518del	ENSP00000406012.2:p.Lys1173ArgfsTer2
ENST00000565298.5:n.3342del
NM_014714.3:c.3518del	NP_055529.2:p.Lys1173ArgfsTer2
XM_006720989.2:c.3518del	XP_006721052.1:p.Lys1173ArgfsTer2
XM_006720990.2:c.3518del	XP_006721053.1:p.Lys1173ArgfsTer2
XM_006720991.2:c.3518del	XP_006721054.1:p.Lys1173ArgfsTer2
XM_006720992.2:c.1151del	XP_006721055.1:p.Lys384ArgfsTer2
XM_011522766.1:c.3272del	XP_011521068.1:p.Lys1091ArgfsTer2
XM_011522767.1:c.2543del	XP_011521069.1:p.Lys848ArgfsTer2
XM_006720990.3:c.3518del	XP_006721053.1:p.Lys1173ArgfsTer2
XM_006720991.3:c.3518del	XP_006721054.1:p.Lys1173ArgfsTer2
XM_006720992.3:c.1151del	XP_006721055.1:p.Lys384ArgfsTer2
XM_011522766.3:c.3272del	XP_011521068.1:p.Lys1091ArgfsTer2
XM_011522767.2:c.2543del	XP_011521069.1:p.Lys848ArgfsTer2
XM_017023910.1:c.3518del	XP_016879399.1:p.Lys1173ArgfsTer2
XM_017023911.1:c.1703del	XP_016879400.1:p.Lys568ArgfsTer2
NM_014714.4:c.3518del MANE Select	NP_055529.2:p.Lys1173ArgfsTer2