Canonical Allele Identifier: CA2575869118

Gene: IFT140

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510888_1510891del , CM000678.2:g.1510888_1510891del	GRCh38
NC_000016.9:g.1560889_1560892del , CM000678.1:g.1560889_1560892del	GRCh37
NC_000016.8:g.1500890_1500893del	NCBI36
NG_032783.1:g.106221_106224del
NG_050910.1:g.22545_22548del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.*56_*59del MANE Select	ENSP00000406012.2:n.*56_*59del
ENST00000361339.9:c.*56_*59del	ENSP00000354895.5:n.*56_*59del
ENST00000397417.6:c.*2883_*2886del	ENSP00000380562.2:n.*2883_*2886del
ENST00000426508.6:c.*56_*59del	ENSP00000406012.2:n.*56_*59del
ENST00000565298.5:n.4269_4272del
NM_014714.3:c.*56_*59del	NP_055529.2:n.*56_*59del
XM_006720989.2:c.*56_*59del	XP_006721052.1:n.*56_*59del
XM_006720990.2:c.*56_*59del	XP_006721053.1:n.*56_*59del
XM_006720991.2:c.*56_*59del	XP_006721054.1:n.*56_*59del
XM_006720992.2:c.*56_*59del	XP_006721055.1:n.*56_*59del
XM_011522766.1:c.*56_*59del	XP_011521068.1:n.*56_*59del
XM_011522767.1:c.*56_*59del	XP_011521069.1:n.*56_*59del
XM_006720990.3:c.*56_*59del	XP_006721053.1:n.*56_*59del
XM_006720991.3:c.*56_*59del	XP_006721054.1:n.*56_*59del
XM_006720992.3:c.*56_*59del	XP_006721055.1:n.*56_*59del
XM_011522766.3:c.*56_*59del	XP_011521068.1:n.*56_*59del
XM_011522767.2:c.*56_*59del	XP_011521069.1:n.*56_*59del
XM_017023910.1:c.*56_*59del	XP_016879399.1:n.*56_*59del
XM_017023911.1:c.*56_*59del	XP_016879400.1:n.*56_*59del
NM_014714.4:c.*56_*59del MANE Select	NP_055529.2:n.*56_*59del