Canonical Allele Identifier: CA2631005399

Gene: IFT140

Linked Data

• gnomAD v4: 16-1520092-T-TC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1520096dup , CM000678.2:g.1520096dup	GRCh38
NC_000016.9:g.1570097dup , CM000678.1:g.1570097dup	GRCh37
NC_000016.8:g.1510098dup	NCBI36
NG_032783.1:g.97016dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.3873+38dup MANE Select	ENSP00000406012.2:n.3873+38dup
ENST00000361339.9:c.1455+38dup	ENSP00000354895.5:n.1455+38dup
ENST00000397417.6:c.*2311+38dup	ENSP00000380562.2:n.*2311+38dup
ENST00000426508.6:c.3873+38dup	ENSP00000406012.2:n.3873+38dup
ENST00000565298.5:n.3697+38dup
NM_014714.3:c.3873+38dup	NP_055529.2:n.3873+38dup
XM_006720989.2:c.3873+38dup	XP_006721052.1:n.3873+38dup
XM_006720990.2:c.3873+38dup	XP_006721053.1:n.3873+38dup
XM_006720991.2:c.3873+38dup	XP_006721054.1:n.3873+38dup
XM_006720992.2:c.1506+38dup	XP_006721055.1:n.1506+38dup
XM_011522766.1:c.3627+38dup	XP_011521068.1:n.3627+38dup
XM_011522767.1:c.2898+38dup	XP_011521069.1:n.2898+38dup
XM_006720990.3:c.3873+38dup	XP_006721053.1:n.3873+38dup
XM_006720991.3:c.3873+38dup	XP_006721054.1:n.3873+38dup
XM_006720992.3:c.1506+38dup	XP_006721055.1:n.1506+38dup
XM_011522766.3:c.3627+38dup	XP_011521068.1:n.3627+38dup
XM_011522767.2:c.2898+38dup	XP_011521069.1:n.2898+38dup
XM_017023910.1:c.3873+38dup	XP_016879399.1:n.3873+38dup
XM_017023911.1:c.2058+38dup	XP_016879400.1:n.2058+38dup
NM_014714.4:c.3873+38dup MANE Select	NP_055529.2:n.3873+38dup