Canonical Allele Identifier: CA973715003

Gene: IFT140

Linked Data

• dbSNP Id: rs2040116720
• gnomAD v3: 16-1510851-T-TCC
• gnomAD v4: 16-1510851-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510853_1510854dup , CM000678.2:g.1510853_1510854dup	GRCh38
NC_000016.9:g.1560854_1560855dup , CM000678.1:g.1560854_1560855dup	GRCh37
NC_000016.8:g.1500855_1500856dup	NCBI36
NG_032783.1:g.106256_106257dup
NG_050910.1:g.22510_22511dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.*91_*92dup MANE Select	ENSP00000406012.2:n.*91_*92dup
ENST00000361339.9:c.*91_*92dup	ENSP00000354895.5:n.*91_*92dup
ENST00000397417.6:c.*2918_*2919dup	ENSP00000380562.2:n.*2918_*2919dup
ENST00000426508.6:c.*91_*92dup	ENSP00000406012.2:n.*91_*92dup
ENST00000565298.5:n.4304_4305dup
NM_014714.3:c.*91_*92dup	NP_055529.2:n.*91_*92dup
XM_006720989.2:c.*91_*92dup	XP_006721052.1:n.*91_*92dup
XM_006720990.2:c.*91_*92dup	XP_006721053.1:n.*91_*92dup
XM_006720991.2:c.*91_*92dup	XP_006721054.1:n.*91_*92dup
XM_006720992.2:c.*91_*92dup	XP_006721055.1:n.*91_*92dup
XM_011522766.1:c.*91_*92dup	XP_011521068.1:n.*91_*92dup
XM_011522767.1:c.*91_*92dup	XP_011521069.1:n.*91_*92dup
XM_006720990.3:c.*91_*92dup	XP_006721053.1:n.*91_*92dup
XM_006720991.3:c.*91_*92dup	XP_006721054.1:n.*91_*92dup
XM_006720992.3:c.*91_*92dup	XP_006721055.1:n.*91_*92dup
XM_011522766.3:c.*91_*92dup	XP_011521068.1:n.*91_*92dup
XM_011522767.2:c.*91_*92dup	XP_011521069.1:n.*91_*92dup
XM_017023910.1:c.*91_*92dup	XP_016879399.1:n.*91_*92dup
XM_017023911.1:c.*91_*92dup	XP_016879400.1:n.*91_*92dup
NM_014714.4:c.*91_*92dup MANE Select	NP_055529.2:n.*91_*92dup