Canonical Allele Identifier: CA7812762

Gene: IFT140

Linked Data

• dbSNP Id: rs767835848
• ExAC: 16:1560950 GGTC / G
• gnomAD v2: 16-1560950-GGTC-G
• gnomAD v3: 16-1510949-GGTC-G
• gnomAD v4: 16-1510949-GGTC-G
• MyVariant Identifiers: chr16:g.1560951_1560953del (hg19) ; chr16:g.1510950_1510952del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.1510953_1510955del , CM000678.2:g.1510953_1510955del	GRCh38
NC_000016.9:g.1560954_1560956del , CM000678.1:g.1560954_1560956del	GRCh37
NC_000016.8:g.1500955_1500957del	NCBI36
NG_032783.1:g.106157_106159del
NG_050910.1:g.22610_22612del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000426508.7:c.4381_4383del MANE Select	ENSP00000406012.2:p.Asp1461del
ENST00000361339.9:c.1963_1965del	ENSP00000354895.5:p.Asp655del
ENST00000397417.6:c.*2819_*2821del	ENSP00000380562.2:n.*2819_*2821del
ENST00000426508.6:c.4381_4383del	ENSP00000406012.2:p.Asp1461del
ENST00000565298.5:n.4205_4207del
NM_014714.3:c.4381_4383del	NP_055529.2:p.Asp1461del
XM_006720989.2:c.4381_4383del	XP_006721052.1:p.Asp1461del
XM_006720990.2:c.4381_4383del	XP_006721053.1:p.Asp1461del
XM_006720991.2:c.4381_4383del	XP_006721054.1:p.Asp1461del
XM_006720992.2:c.2014_2016del	XP_006721055.1:p.Asp672del
XM_011522766.1:c.4135_4137del	XP_011521068.1:p.Asp1379del
XM_011522767.1:c.3406_3408del	XP_011521069.1:p.Asp1136del
XM_006720990.3:c.4381_4383del	XP_006721053.1:p.Asp1461del
XM_006720991.3:c.4381_4383del	XP_006721054.1:p.Asp1461del
XM_006720992.3:c.2014_2016del	XP_006721055.1:p.Asp672del
XM_011522766.3:c.4135_4137del	XP_011521068.1:p.Asp1379del
XM_011522767.2:c.3406_3408del	XP_011521069.1:p.Asp1136del
XM_017023910.1:c.4381_4383del	XP_016879399.1:p.Asp1461del
XM_017023911.1:c.2566_2568del	XP_016879400.1:p.Asp856del
NM_014714.4:c.4381_4383del MANE Select	NP_055529.2:p.Asp1461del