Canonical Allele Identifier: CA2580090750

Gene: IFT140

Linked Data

• ClinVar Variation Id: 1997959
• ClinVar RCV Id: RCV002792028

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511170_1511171dup , CM000678.2:g.1511170_1511171dup	GRCh38
NC_000016.9:g.1561171_1561172dup , CM000678.1:g.1561171_1561172dup	GRCh37
NC_000016.8:g.1501172_1501173dup	NCBI36
NG_032783.1:g.105938_105939dup
NG_050910.1:g.22827_22828dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4183-21_4183-20dup MANE Select	ENSP00000406012.2:n.4183-21_4183-20dup
ENST00000361339.9:c.1765-21_1765-20dup	ENSP00000354895.5:n.1765-21_1765-20dup
ENST00000397417.6:c.*2621-21_*2621-20dup	ENSP00000380562.2:n.*2621-21_*2621-20dup
ENST00000426508.6:c.4183-21_4183-20dup	ENSP00000406012.2:n.4183-21_4183-20dup
ENST00000565298.5:n.4007-21_4007-20dup
NM_014714.3:c.4183-21_4183-20dup	NP_055529.2:n.4183-21_4183-20dup
XM_006720989.2:c.4183-21_4183-20dup	XP_006721052.1:n.4183-21_4183-20dup
XM_006720990.2:c.4183-21_4183-20dup	XP_006721053.1:n.4183-21_4183-20dup
XM_006720991.2:c.4183-21_4183-20dup	XP_006721054.1:n.4183-21_4183-20dup
XM_006720992.2:c.1816-21_1816-20dup	XP_006721055.1:n.1816-21_1816-20dup
XM_011522766.1:c.3937-21_3937-20dup	XP_011521068.1:n.3937-21_3937-20dup
XM_011522767.1:c.3208-21_3208-20dup	XP_011521069.1:n.3208-21_3208-20dup
XM_006720990.3:c.4183-21_4183-20dup	XP_006721053.1:n.4183-21_4183-20dup
XM_006720991.3:c.4183-21_4183-20dup	XP_006721054.1:n.4183-21_4183-20dup
XM_006720992.3:c.1816-21_1816-20dup	XP_006721055.1:n.1816-21_1816-20dup
XM_011522766.3:c.3937-21_3937-20dup	XP_011521068.1:n.3937-21_3937-20dup
XM_011522767.2:c.3208-21_3208-20dup	XP_011521069.1:n.3208-21_3208-20dup
XM_017023910.1:c.4183-21_4183-20dup	XP_016879399.1:n.4183-21_4183-20dup
XM_017023911.1:c.2368-21_2368-20dup	XP_016879400.1:n.2368-21_2368-20dup
NM_014714.4:c.4183-21_4183-20dup MANE Select	NP_055529.2:n.4183-21_4183-20dup