Canonical Allele Identifier: CA2631007264

Gene: IFT140

Linked Data

• gnomAD v4: 16-1511191-A-ACCAGGCACGACCCTCTGCCTGCAGG

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511201_1511225dup , CM000678.2:g.1511201_1511225dup	GRCh38
NC_000016.9:g.1561202_1561226dup , CM000678.1:g.1561202_1561226dup	GRCh37
NC_000016.8:g.1501203_1501227dup	NCBI36
NG_032783.1:g.105893_105917dup
NG_050910.1:g.22858_22882dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4183-66_4183-42dup MANE Select	ENSP00000406012.2:n.4183-66_4183-42dup
ENST00000361339.9:c.1765-66_1765-42dup	ENSP00000354895.5:n.1765-66_1765-42dup
ENST00000397417.6:c.*2621-66_*2621-42dup	ENSP00000380562.2:n.*2621-66_*2621-42dup
ENST00000426508.6:c.4183-66_4183-42dup	ENSP00000406012.2:n.4183-66_4183-42dup
ENST00000565298.5:n.4007-66_4007-42dup
NM_014714.3:c.4183-66_4183-42dup	NP_055529.2:n.4183-66_4183-42dup
XM_006720989.2:c.4183-66_4183-42dup	XP_006721052.1:n.4183-66_4183-42dup
XM_006720990.2:c.4183-66_4183-42dup	XP_006721053.1:n.4183-66_4183-42dup
XM_006720991.2:c.4183-66_4183-42dup	XP_006721054.1:n.4183-66_4183-42dup
XM_006720992.2:c.1816-66_1816-42dup	XP_006721055.1:n.1816-66_1816-42dup
XM_011522766.1:c.3937-66_3937-42dup	XP_011521068.1:n.3937-66_3937-42dup
XM_011522767.1:c.3208-66_3208-42dup	XP_011521069.1:n.3208-66_3208-42dup
XM_006720990.3:c.4183-66_4183-42dup	XP_006721053.1:n.4183-66_4183-42dup
XM_006720991.3:c.4183-66_4183-42dup	XP_006721054.1:n.4183-66_4183-42dup
XM_006720992.3:c.1816-66_1816-42dup	XP_006721055.1:n.1816-66_1816-42dup
XM_011522766.3:c.3937-66_3937-42dup	XP_011521068.1:n.3937-66_3937-42dup
XM_011522767.2:c.3208-66_3208-42dup	XP_011521069.1:n.3208-66_3208-42dup
XM_017023910.1:c.4183-66_4183-42dup	XP_016879399.1:n.4183-66_4183-42dup
XM_017023911.1:c.2368-66_2368-42dup	XP_016879400.1:n.2368-66_2368-42dup
NM_014714.4:c.4183-66_4183-42dup MANE Select	NP_055529.2:n.4183-66_4183-42dup