Canonical Allele Identifier: CA2201718348

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510966_1510969delinsTCCA , CM000678.2:g.1510966_1510969delinsTCCA	GRCh38
NC_000016.9:g.1560967_1560970delinsTCCA , CM000678.1:g.1560967_1560970delinsTCCA	GRCh37
NC_000016.8:g.1500968_1500971delinsTCCA	NCBI36
NG_032783.1:g.106140_106143delinsTGGA
NG_050910.1:g.22623_22626delinsTCCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4364_4367delinsTGGA MANE Select	ENSP00000406012.2:p.Val1455=
ENST00000361339.9:c.1946_1949delinsTGGA	ENSP00000354895.5:p.Val649=
ENST00000397417.6:c.*2802_*2805delinsTGGA	ENSP00000380562.2:n.*2802_*2805delinsTGGA
ENST00000426508.6:c.4364_4367delinsTGGA	ENSP00000406012.2:p.Val1455=
ENST00000565298.5:n.4188_4191delinsTGGA
NM_014714.3:c.4364_4367delinsTGGA	NP_055529.2:p.Val1455=
XM_006720989.2:c.4364_4367delinsTGGA	XP_006721052.1:p.Val1455=
XM_006720990.2:c.4364_4367delinsTGGA	XP_006721053.1:p.Val1455=
XM_006720991.2:c.4364_4367delinsTGGA	XP_006721054.1:p.Val1455=
XM_006720992.2:c.1997_2000delinsTGGA	XP_006721055.1:p.Val666=
XM_011522766.1:c.4118_4121delinsTGGA	XP_011521068.1:p.Val1373=
XM_011522767.1:c.3389_3392delinsTGGA	XP_011521069.1:p.Val1130=
XM_006720990.3:c.4364_4367delinsTGGA	XP_006721053.1:p.Val1455=
XM_006720991.3:c.4364_4367delinsTGGA	XP_006721054.1:p.Val1455=
XM_006720992.3:c.1997_2000delinsTGGA	XP_006721055.1:p.Val666=
XM_011522766.3:c.4118_4121delinsTGGA	XP_011521068.1:p.Val1373=
XM_011522767.2:c.3389_3392delinsTGGA	XP_011521069.1:p.Val1130=
XM_017023910.1:c.4364_4367delinsTGGA	XP_016879399.1:p.Val1455=
XM_017023911.1:c.2549_2552delinsTGGA	XP_016879400.1:p.Val850=
NM_014714.4:c.4364_4367delinsTGGA MANE Select	NP_055529.2:p.Val1455=