Canonical Allele Identifier: CA2201740633

Gene: IFT140

Linked Data

• dbSNP Id: rs2034739559

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1584215_1584216del , CM000678.2:g.1584215_1584216del	GRCh38
NC_000016.9:g.1634216_1634217del , CM000678.1:g.1634216_1634217del	GRCh37
NC_000016.8:g.1574217_1574218del	NCBI36
NG_032783.1:g.32894_32895del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.1359+2_1359+3del MANE Select	ENSP00000406012.2:n.1359+2_1359+3del
ENST00000397417.6:c.532+2_532+3del	ENSP00000380562.2:n.532+2_532+3del
ENST00000426508.6:c.1359+2_1359+3del	ENSP00000406012.2:n.1359+2_1359+3del
ENST00000439987.6:n.1420+2_1420+3del
ENST00000565298.5:n.47+2_47+3del
NM_014714.3:c.1359+2_1359+3del	NP_055529.2:n.1359+2_1359+3del
XM_005255725.3:c.1359+2_1359+3del	XP_005255782.1:n.1359+2_1359+3del
XM_005255726.2:c.1359+2_1359+3del	XP_005255783.1:n.1359+2_1359+3del
XM_006720989.2:c.1359+2_1359+3del	XP_006721052.1:n.1359+2_1359+3del
XM_006720990.2:c.1359+2_1359+3del	XP_006721053.1:n.1359+2_1359+3del
XM_006720991.2:c.1359+2_1359+3del	XP_006721054.1:n.1359+2_1359+3del
XM_011522766.1:c.1359+2_1359+3del	XP_011521068.1:n.1359+2_1359+3del
XM_011522767.1:c.384+2_384+3del	XP_011521069.1:n.384+2_384+3del
XM_011522768.1:c.1359+2_1359+3del	XP_011521070.1:n.1359+2_1359+3del
XM_011522769.1:c.1359+2_1359+3del	XP_011521071.1:n.1359+2_1359+3del
XM_011522771.1:c.1359+2_1359+3del	XP_011521073.1:n.1359+2_1359+3del
XM_011522772.1:c.1359+2_1359+3del	XP_011521074.1:n.1359+2_1359+3del
NR_135176.1:n.59+3630_59+3631del
XM_005255725.5:c.1359+2_1359+3del	XP_005255782.1:n.1359+2_1359+3del
XM_005255726.4:c.1359+2_1359+3del	XP_005255783.1:n.1359+2_1359+3del
XM_006720990.3:c.1359+2_1359+3del	XP_006721053.1:n.1359+2_1359+3del
XM_006720991.3:c.1359+2_1359+3del	XP_006721054.1:n.1359+2_1359+3del
XM_011522766.3:c.1359+2_1359+3del	XP_011521068.1:n.1359+2_1359+3del
XM_011522767.2:c.384+2_384+3del	XP_011521069.1:n.384+2_384+3del
XM_011522769.3:c.1359+2_1359+3del	XP_011521071.1:n.1359+2_1359+3del
XM_011522771.3:c.1359+2_1359+3del	XP_011521073.1:n.1359+2_1359+3del
XM_011522772.3:c.1359+2_1359+3del	XP_011521074.1:n.1359+2_1359+3del
XM_017023910.1:c.1359+2_1359+3del	XP_016879399.1:n.1359+2_1359+3del
XM_017023911.1:c.-339+2_-339+3del	XP_016879400.1:n.-339+2_-339+3del
NM_014714.4:c.1359+2_1359+3del MANE Select	NP_055529.2:n.1359+2_1359+3del