Canonical Allele Identifier: CA7812824

Gene: IFT140

Linked Data

• ClinVar Variation Id: 719195
• ClinVar RCV Id: RCV000892292 ; RCV001075463 ; RCV003930819
• dbSNP Id: rs754312950
• ExAC: 16:1561117 A / AGCC
• gnomAD v2: 16-1561117-A-AGCC
• gnomAD v3: 16-1511116-A-AGCC
• gnomAD v4: 16-1511116-A-AGCC
• MyVariant Identifiers: chr16:g.1561120_1561121insGCC (hg19) ; chr16:g.1561117_1561118insGCC (hg19) ; chr16:g.1511119_1511120insGCC (hg38) ; chr16:g.1511116_1511117insGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511125_1511127dup , CM000678.2:g.1511125_1511127dup	GRCh38
NC_000016.9:g.1561126_1561128dup , CM000678.1:g.1561126_1561128dup	GRCh37
NC_000016.8:g.1501127_1501129dup	NCBI36
NG_032783.1:g.105990_105992dup
NG_050910.1:g.22782_22784dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4214_4216dup MANE Select	ENSP00000406012.2:p.Arg1405_Leu1406insArg
ENST00000361339.9:c.1796_1798dup	ENSP00000354895.5:p.Arg599_Leu600insArg
ENST00000397417.6:c.*2652_*2654dup	ENSP00000380562.2:n.*2652_*2654dup
ENST00000426508.6:c.4214_4216dup	ENSP00000406012.2:p.Arg1405_Leu1406insArg
ENST00000565298.5:n.4038_4040dup
NM_014714.3:c.4214_4216dup	NP_055529.2:p.Arg1405_Leu1406insArg
XM_006720989.2:c.4214_4216dup	XP_006721052.1:p.Arg1405_Leu1406insArg
XM_006720990.2:c.4214_4216dup	XP_006721053.1:p.Arg1405_Leu1406insArg
XM_006720991.2:c.4214_4216dup	XP_006721054.1:p.Arg1405_Leu1406insArg
XM_006720992.2:c.1847_1849dup	XP_006721055.1:p.Arg616_Leu617insArg
XM_011522766.1:c.3968_3970dup	XP_011521068.1:p.Arg1323_Leu1324insArg
XM_011522767.1:c.3239_3241dup	XP_011521069.1:p.Arg1080_Leu1081insArg
XM_006720990.3:c.4214_4216dup	XP_006721053.1:p.Arg1405_Leu1406insArg
XM_006720991.3:c.4214_4216dup	XP_006721054.1:p.Arg1405_Leu1406insArg
XM_006720992.3:c.1847_1849dup	XP_006721055.1:p.Arg616_Leu617insArg
XM_011522766.3:c.3968_3970dup	XP_011521068.1:p.Arg1323_Leu1324insArg
XM_011522767.2:c.3239_3241dup	XP_011521069.1:p.Arg1080_Leu1081insArg
XM_017023910.1:c.4214_4216dup	XP_016879399.1:p.Arg1405_Leu1406insArg
XM_017023911.1:c.2399_2401dup	XP_016879400.1:p.Arg800_Leu801insArg
NM_014714.4:c.4214_4216dup MANE Select	NP_055529.2:p.Arg1405_Leu1406insArg