Canonical Allele Identifier: CA973715139

Gene: IFT140

Linked Data

• dbSNP Id: rs2051432255
• gnomAD v3: 16-1511101-A-AT
• gnomAD v4: 16-1511101-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1511102dup , CM000678.2:g.1511102dup	GRCh38
NC_000016.9:g.1561103dup , CM000678.1:g.1561103dup	GRCh37
NC_000016.8:g.1501104dup	NCBI36
NG_032783.1:g.106007dup
NG_050910.1:g.22759dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4231dup MANE Select	ENSP00000406012.2:p.Met1411AsnfsTer?
ENST00000361339.9:c.1813dup	ENSP00000354895.5:p.Met605AsnfsTer?
ENST00000397417.6:c.*2669dup	ENSP00000380562.2:n.*2669dup
ENST00000426508.6:c.4231dup	ENSP00000406012.2:p.Met1411AsnfsTer?
ENST00000565298.5:n.4055dup
NM_014714.3:c.4231dup	NP_055529.2:p.Met1411AsnfsTer?
XM_006720989.2:c.4231dup	XP_006721052.1:p.Met1411AsnfsTer?
XM_006720990.2:c.4231dup	XP_006721053.1:p.Met1411AsnfsTer?
XM_006720991.2:c.4231dup	XP_006721054.1:p.Met1411AsnfsTer?
XM_006720992.2:c.1864dup	XP_006721055.1:p.Met622AsnfsTer?
XM_011522766.1:c.3985dup	XP_011521068.1:p.Met1329AsnfsTer?
XM_011522767.1:c.3256dup	XP_011521069.1:p.Met1086AsnfsTer?
XM_006720990.3:c.4231dup	XP_006721053.1:p.Met1411AsnfsTer?
XM_006720991.3:c.4231dup	XP_006721054.1:p.Met1411AsnfsTer?
XM_006720992.3:c.1864dup	XP_006721055.1:p.Met622AsnfsTer?
XM_011522766.3:c.3985dup	XP_011521068.1:p.Met1329AsnfsTer?
XM_011522767.2:c.3256dup	XP_011521069.1:p.Met1086AsnfsTer?
XM_017023910.1:c.4231dup	XP_016879399.1:p.Met1411AsnfsTer?
XM_017023911.1:c.2416dup	XP_016879400.1:p.Met806AsnfsTer?
NM_014714.4:c.4231dup MANE Select	NP_055529.2:p.Met1411AsnfsTer?