Canonical Allele Identifier: CA2201718134

Gene: IFT140

Linked Data

• dbSNP Id: rs2040105358
• gnomAD v4: 16-1510569-TATG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510573_1510575del , CM000678.2:g.1510573_1510575del	GRCh38
NC_000016.9:g.1560574_1560576del , CM000678.1:g.1560574_1560576del	GRCh37
NC_000016.8:g.1500575_1500577del	NCBI36
NG_032783.1:g.106537_106539del
NG_050910.1:g.22230_22232del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.*372_*374del MANE Select	ENSP00000406012.2:n.*372_*374del
ENST00000361339.9:c.*372_*374del	ENSP00000354895.5:n.*372_*374del
ENST00000397417.6:c.*3199_*3201del	ENSP00000380562.2:n.*3199_*3201del
ENST00000426508.6:c.*372_*374del	ENSP00000406012.2:n.*372_*374del
ENST00000565298.5:n.4585_4587del
NM_014714.3:c.*372_*374del	NP_055529.2:n.*372_*374del
XM_006720989.2:c.*372_*374del	XP_006721052.1:n.*372_*374del
XM_006720990.2:c.*372_*374del	XP_006721053.1:n.*372_*374del
XM_006720991.2:c.*372_*374del	XP_006721054.1:n.*372_*374del
XM_006720992.2:c.*372_*374del	XP_006721055.1:n.*372_*374del
XM_011522766.1:c.*372_*374del	XP_011521068.1:n.*372_*374del
XM_011522767.1:c.*372_*374del	XP_011521069.1:n.*372_*374del
XM_006720990.3:c.*372_*374del	XP_006721053.1:n.*372_*374del
XM_006720991.3:c.*372_*374del	XP_006721054.1:n.*372_*374del
XM_006720992.3:c.*372_*374del	XP_006721055.1:n.*372_*374del
XM_011522766.3:c.*372_*374del	XP_011521068.1:n.*372_*374del
XM_011522767.2:c.*372_*374del	XP_011521069.1:n.*372_*374del
XM_017023910.1:c.*372_*374del	XP_016879399.1:n.*372_*374del
XM_017023911.1:c.*372_*374del	XP_016879400.1:n.*372_*374del
NM_014714.4:c.*372_*374del MANE Select	NP_055529.2:n.*372_*374del